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PubMedDate not supplied

[Behçet's disease. Assessment with magnetic resonance of involvement of the central nervous system].

UNLABELLED: Behçet's disease is a chronic multisystemic inflammatory disease that usually presents in the young adult. Central nervous lesions occur in 5 to 7% of patients and are the most severe manifestations of this disease. METHODS: We retrospectively reviewed the MR images of patients with neurological manifestations of Behçet's disease evaluated in the Neuroradiology Department of Garcia de Orta Hospital and the MRI center of Caselas, Portugal, between 1994 and January 2000. RESULTS: There were 8 cases of Neuro- Behçet. Patients' ages ranged from 24 to 46 years (mean 36.25). There were 4 males and 4 females (male/female ratio = 1:1). In 3 cases (37.5%) there was brainstem involvement, the basal ganglia and thalamus were affected in 2 cases (25%) and the internal capsule and corona radiata in 2 cases (25%). In 3 cases (37.5%) there was telencephalic white matter involvement and in 1 case (12.5%) the spinal cord was involved. CONCLUSION: The topography of the lesions, the absence of a defined arterial territory distribution and the partial or total regression of lesions over time help to distinguish BD from other vasculitic processes and inflammatory/demyelinating diseases.

Adult↗
PubMed2001

[A case of motor neuron disease with presenile dementia showing bilateral degeneration of the pyramidal tract on cranial MRI].

A 58-year-old man developed dysarthria followed by a personality change. Subsequently, he developed muscle weakness and atrophy of the left upper and lower limbs, leading to repeated falls when he tried to walk. Neurological examination showed mild dementia, dysarthria, dysphagia, atrophy and fasciculation of the tongue, and muscle weakness and atrophy of all four extremities, particularly on the left side. Deep tendon reflexes were slightly diminished in the upper limbs and slightly exaggerated in the lower limbs without Babinski's sign. Cranial MRI revealed marked atrophy of the medial portions of the temporal lobes, more striking on the right, and T2-weighted imaging revealed symmetrical high-intensity signals from the posterior limbs of the internal capsules to the cerebral peduncles in the midbrain, extending to the pons on the left. 125I-IMP SPECT showed diffuse reduction of RI uptake in the frontal and temporal lobes, which was more marked on the right. We diagnosed this is a case of motor neuron disease with presenile dementia, which Mitsuyama et al. proposed as a new clinical entity, as well as a rare example of bilateral degeneration of the pyramidal tract on cranial MRI.

Alzheimer Disease↗
PubMed2001

Development and reorganization of corticospinal projections in EphA4 deficient mice.

The Eph family of receptor tyrosine kinases and their ligands, the ephrins, are important regulators of axon guidance and cell migration in the developing nervous system. Inactivation of the EphA4 gene results in axon guidance defects of the corticospinal tract, a major descending motor pathway that originates in the cortex and terminates at all levels of the spinal cord. In this investigation, we report that although the initial development of the corticospinal projection is normal through the cortex, internal capsule, cerebral peduncle, and medulla in the brain of EphA4 deficient animals, corticospinal axons exhibit gross abnormalities when they enter the gray matter of the spinal cord. Notably, many corticospinal axons fail to remain confined to one side of the spinal cord during development and instead, aberrantly project across the midline, terminating ipsilateral to their cells of origin. Given the possible repulsive interactions between EphA4 and one of its ligands, ephrinB3, this defect could be consistent with a loss of responsiveness by corticospinal axons to ephrinB3 that is expressed at the spinal cord midline. Furthermore, we show that EphA4 deficient animals exhibit ventral displacement of the mature corticospinal termination pattern, suggesting that developing corticospinal axons, which may also express ephrinB3, fail to be repelled from areas of high EphA4 expression in the intermediate zone of the normal spinal cord. Taken together, these results suggest that the dual expression of EphA4 on corticospinal axons and also within the surrounding gray matter is very important for the correct development and termination of the corticospinal projection within the spinal cord.

Age Factors↗
PubMed2001

Lacunar syndromes due to small haemorrhagic lesions.

OBJECTIVE: To study the frequency, clinical presentations and prognostic aspects of haemorrhagic lacunar syndromes. MATERIAL AND METHODS: 375 patients of cerebrovascular accidents admitted in neurology wards over 2 years were studied. Based on CT findings, 114 patients were diagnosed as intra cerebral haemorrhage (ICH). They were assessed in detail by careful history and examination of neurological status. Coagulation studies, MRI and angiography were done in selected cases. RESULTS: In 17 (15%) patients, size of hematoma was < 2 cms as seen in CT scan. The sites of these small haemorrhages were in basal ganglia (6 patients), internal capsule (3 patients), thalamus (5 patients) and pons (3 patients). Depending on their location they presented as pure motor stroke, pure sensory stroke, ataxic hemiparesis, sensorimotor stroke and clumsy hand-dysarthia syndrome. Three patients showed interesting phenomena like transient ischemic attack caused by bleed or previous disease showing improvement after bleed. Prognosis of these small ICH was excellent with 100% survival rate and lesser disability as shown by good functional recovery. CONCLUSIONS: Haemorrhagic lacunar syndromes are not just the statistical curiosities but could have significant prognostic bearing.

Female↗
PubMedDate not supplied

[An autopsy case of Ehlers-Danlos syndrome showing various types of cerebrovascular disease].

We report a 73-year-old woman with Ehlers-Danlos syndrome (EDS) and hypertension who had developed various types of cerebrovascular disease. She had suffered from cerebral hemorrhage of the left putamen at the age of 58, of the left parietal lobe at 64 and cerebral infarction of right internal capsule at 71. EDS type II or III was suggested by two times of skin biopsies. A brain CT at the age of 73 revealed a comparatively large cerebral aneurysm in the territory of the anterior cerebral artery. The patient was treated conservatively, but died due to rupture of the aneurysm. The wall of the aneurysm was made up thin collagen fibers without elastic fibers. There were other multiple small aneurysms in the cerebral arteries, but none in other organs. Deposition of acid mucopolysaccharides was noted in the media of the abdominal aorta. Finally, the present case was thought most likely to be of EDS type IV. It was suggested that one of the causes of the cerebral hemorrhage at the ages of 58 and 64 and the infarction at 71 was related to hypertension, since brain MR angiography at 71 showed no clear aneurysms. In cases of EDS, one should consider the possible formation or rupture of cerebral aneurysm even though the course is favorable.

Aged↗
PubMed2001

[New functional cerebral cartography: studies of plasticity of the human brain].

The non-invasive brain scanning techniques, introduced a quarter of a century ago, have become crucial for diagnosis in clinical neurology. They have also been used to investigate brain function and have provided information about normal activity and pathogenesis. They have been used to investigate functional specialisation in the brain and how specialised areas communicate to generate complex integrated functions such as speech, memory, the emotions and so on. Brain plasticity is a generic term that has now come to be used to signify any changes in brain structure or function. The phenomenon is poorly understood, and yet clinical neurologists are aware that spontaneous recovery from brain lesions is not uncommon. An improved understanding of the mechanisms of recovery may generate new therapeutic strategies and indicate ways of modulating mechanisms that promote plastic compensation for loss of function. The main methods used to investigate these issues are positron emission tomography and magnetic resonance imaging (MRI). The techniques of functional brain mapping and computational morphometrics depend on high performance scanners and a validated set of analytic statistical procedures that generate reproducible data and meaningful inferences from them. The motor system presents a good paradigm to illustrate advances made by scanning towards an understanding of plasticity at the level of brain areas. The normal motor system is organised in a nested hierarchy. Recovery from paralysis caused by internal capsule strokes involves functional reorganisation manifesting as changed patterns of activity in the component brain areas of the normal motor system. The pattern of plastic modification depends in part on patterns of residual or disturbed connectivity after brain injury. Therapeutic manipulations in patients with Parkinson's disease using deep brain stimulation, dopaminergic agents or foetal mesencephalic transplantation provide a means to examine mechanisms underpinning plastic change. Other models of plastic change, such as normal visuospatial learning or re-establishing speech comprehension after cochlear implantation in the deaf illustrate how patterns of brain function adapt over time. Limitations of the scanning techniques and prospects for the future are discussed in relation to new developments in the neuroimaging field.

Brain↗
PubMed2001

Proton spectroscopy and diffusion imaging on the first day of life after perinatal asphyxia: preliminary report.

BACKGROUND AND PURPOSE: MR techniques have proved useful in assessing brain injury from perinatal asphyxia when the injury is subacute or chronic. Recent advances in understanding the molecular mechanisms of brain injury have made medical intervention plausible, creating a need for assessment of the brain within the first few hours of life. We report the results of early (first 24 hours after birth) MR imaging in seven patients, including proton MR spectroscopy in six. METHODS: MR studies were performed within the first 24 hours of life in seven consecutive patients who were encephalopathic after complicated deliveries. Standard T1-, T2-, and diffusion-weighted sequences were performed in all patients; single-voxel MR spectroscopy was performed in two locations in six of the seven patients. Follow-up MR studies were performed in four patients at ages 7, 8, 9, and 15 days, respectively. RESULTS: T1-weighted images were normal in all seven patients. T2-weighted images were normal in three patients and showed T2 prolongation in the basal ganglia or white matter in the other four. Diffusion images showed small abnormalities in the lateral thalami or internal capsules in all seven patients. Comparison with clinical course in all seven patients and with follow-up MR studies in four showed that the diffusion images underestimated the extent of brain injury. Proton MR spectroscopy showed substantial lactate elevation in all six of the patients studied. Two patients died in the neonatal period and the other five were left with clinically significant neurologic impairment. CONCLUSION: MR spectroscopy performed in the first 24 hours after birth is sensitive to the presence of hypoxic-ischemic brain injury, whereas diffusion imaging may help identify but underestimate the extent of the injury. Further studies are ongoing in an attempt to expand upon this observation.

Asphyxia Neonatorum↗
PubMed2001

Sinusitis and ischemic stroke.

Acute sinusitis is a prevalent and generally uncomplicated infection that is normally resolved by medical therapy. However, severe neurological complications are known, and comprise of cerebral abscess, cavernous sinus thrombosis, meningitis, and epidural or subdural empyema. We report a case about a 10-year-old girl with a severe acute pansinusitis and ischemic stroke in the right lentiform nucleus and the anterior part of the right internal capsule. Possible explanations for this rare combination are discussed.

Acute Disease↗
PubMed2001

Characteristics of spongiform leukoencephalopathy induced by heroin: MRI detection.

OBJECTIVE: To elucidate the imaging characteristics of spongiform leukoencephalopathy induced by heroin and the diagnostic value of MRI examination. METHODS: Eleven cases of heroin addiction were examined by MRI. The sequences included T1-weighted imaging (T1WI), T2-weighted imaging (T2WI) and fast fluid-attenuated inversion recovery pulse sequence (Flair). RESULTS: Bilateral symmetrical lesions were located in the white matter of the cerebrum and cerebellum, the internal capsule in all cases, and the callosum in 6 cases. Elliptical lesions in the mesencephalon were found in two cases. These lesions were shown as hypointense signals on T1WI and hyperintense signals on T2WI and Flair's imaging. Cerebellar white matter suffered more severely, but the dentate nuclei were not invaded. CONCLUSION: Heroin-induced spongiform leukoencephalopathy has characteristic patterns in MRI, which are very specific to this form of the disease.

Adult↗
PubMed2001

Central nervous system involvement in hemolytic uremic syndrome (HUS)--a retrospective analysis of cerebral CT and MRI studies.

PURPOSE: To evaluate the morphological changes of cerebral involvement in children with HUS utilizing CT and MRI. METHOD AND PATIENTS: We retrospectively analyzed 13 cranial CTs (CCT) and 3 cranial MRI studies of 5 out of 93 patients with clinically proven HUS and severe CNS involvement (seizures and coma and dysregulation of breathing) referred to the department of pediatric nephrology (aged 1.5-15 years, median 2 years, 2 girls, 3 boys) between 1987-2000. RESULTS: Three of 5 patients had CT and MRI studies, 2 patients had CT scans only. One of 2 patients with isolated basal ganglia ischemia and normal first CCT developed a secondary hemorrhagic infarction. Another patient with an initially normal MRI developed an infarction of the right cerebral arteries with mass effects. One of 2 patients with basal ganglia involvement showed additional infarction of thalami and external and internal capsules whereas the other had only minimal involvement of adjacent white matter, but consecutive hemorrhagic infarction. Four of 5 children died (3 of them with varying extents of basal ganglia and adjacent white matter involvement, 1 with right cerebral artery infarction). Basal ganglia involvement was found in the majority of cases as well as in all lethal cases. The surviving patient with isolated basal ganglia involvement now suffers from tetraspastic disorder and convulsions. CONCLUSION: Cerebral involvement is one of the major complications of HUS. According to the literature, basal ganglia involvement in HUS is common and quite often associated with other cerebral pathologies. First imaging findings may not show pathologies. Contradictory to previous reports, even children with isolated basal ganglia pathology and/or less involvement of white matter and coma may either die from the underlying disease or their clinical outcome may be poor.

Adolescent↗
PubMed2002

Activity-dependent presynaptic effect of serotonin 1B receptors on the somatosensory thalamocortical transmission in neonatal mice.

The disruptive effect of excessive serotonin (5-HT) levels on the development of cortical sensory maps is mediated by 5-HT1B receptors, as shown in barrelless monoamine oxidase A knock-out mice, in which the additional inactivation of 5-HT1B receptors restores the barrels. However, it is unclear whether 5-HT1B receptors mediate their effect on barrel formation by a trophic action or an activity-dependent effect. To test for a possible effect of 5-HT1B receptors on activity, we studied the influence of 5-HT on the thalamocortical (TC) synaptic transmission in layer IV cortical neurons. In TC slices of postnatal day 5 (P5)-P9 neonate mice, we show that 5-HT reduces monosynaptic TC EPSCs evoked by low-frequency internal capsule stimulation and relieves the short-term depression of the EPSC evoked by high-frequency stimulation. We provide evidence that 5-HT decreases the presynaptic release of glutamate: 5-HT reduces similarly the AMPA-kainate and NMDA components and the paired pulse depression of TC EPSCs. We show also that 5-HT1B receptors mediate exclusively the effect of 5-HT: first, the effect of 5-HT on the TC EPSC is correlated with the transient expression of 5-HT1B receptor mRNAs in the ventrobasal thalamic nucleus during postnatal development; second, it is mimicked by a 5-HT1B agonist; third, 5-HT has no effect in 5-HT1B receptor knock-out mice. Our results show that in the developing barrel field of the neonatal mice, 5-HT1B receptors mediate an activity-dependent regulation of the TC EPSC that could favor the propagation of high-frequency TC activity.

Aging↗
PubMedDate not supplied

[Neuroborreliosis: CT and MRI findings in 14 cases. Preliminary communication].

Since 1987 when Januszkiewicz and Kieda first described borreliosis, it is commonly recognized as infection of the nervous system in Poland, especially in north-east region. The diagnosis of the disease is mainly based on typical clinical signs, supported by serological testing. In 14 patients with clinical symptoms of neuroborreliosis CT and MR were performed to evaluate CNS changes. MR examinations were abnormal in 36%. Most patients (60%) presented cerebral atrophy. In 2 cases areas of abnormal signal were identified within cerebral white matter as well as within the brain stem. In the first case it was, recognized as demyelination focus, in second one MR showed evidence of or were suggestive of vascular involvement. In one case symmetrical calcifications were also found in internal capsules. Neuroradiological signs in Lyme disease are not specific. Neuroborreliosis has to be considered when patients present foci of hyperintense signal (T2-weighted images) in white matter and brain stem.

Adolescent↗
PubMed2002

MR imaging assessment of myelination in the very preterm brain.

BACKGROUND AND PURPOSE: MR imaging was performed in very preterm infants by using an MR imager in the neonatal intensive care unit. The aims of this study were to assess the development of myelination in the preterm brain based on MR imaging findings and to compare the ability of T1-weighted conventional spin-echo, inversion recovery fast spin-echo, and T2-weighted fast spin-echo MR imaging to show myelination in these infants. METHODS: MR imaging was performed for 26 preterm infants with a median gestational age of 28 weeks who had normal neurodevelopmental outcomes at 2 years corrected age. RESULTS: Myelin was evident in the gracile and cuneate nuclei and fasciculi, vestibular nuclei, cerebellar vermis, inferior and superior cerebellar peduncles, dentate nucleus, medial longitudinal fasciculus, medial geniculate bodies, subthalamic nuclei, inferior olivary nuclei, ventrolateral nuclei of the thalamus, decussation of the superior cerebellar peduncles, medial lemnisci, lateral lemnisci, and inferior colliculi at < or = 28 weeks gestational age. From this gestational age, myelination was not visualized at any new site until 36 weeks gestational age, when myelin was visualized in the corona radiata, posterior limb of the internal capsule, corticospinal tracts of the precentral and postcentral gyri, and lateral geniculate bodies. T2-weighted fast spin-echo MR imaging showed myelin in gray matter nuclei at an earlier gestational age than did T1-weighted conventional spin-echo or inversion recovery fast spin-echo MR imaging. T1-weighted conventional spin-echo MR imaging showed myelin earlier in some white matter tracts in the preterm brain. CONCLUSION: Myelination was evident in numerous gray and white matter structures in the very preterm brain. A knowledge of myelination milestones will allow delays to be detected at an early stage.

Brain↗
PubMedDate not supplied

[Angiomas of blood vessels supplying the basal ganglia and the diencephalon].

The author discusses the problem of surgical treatment of intracranial angiomas situated in basal ganglia and diencephalon. Vascular malformations in this area were found in 7.5% of cases in a group of 80 patients with intracranial angiomas. In all 6 cases the onset of the disease was sudden with meningocerebral haemorrhage, prolonged coma and hemiplegia. The malformations had usually the features of arteriovenous angioma. The afferent vessels come usually from the medial short and long vessels branching off from the anterior and middle cerebral arteries, the choroid arteries and the posterior communicating artery. The author isolated two types of malformations differing in their situation, shape and range of vascularization. In the "subventricular" type situated within the nucleus caudatus and lenticularis, internal capsule and thalamus the malformation can be exposed well from the approach through the lateral ventricle. The angiomas situated nearer to the base of hemisphere (the parabasal type), in the diencephalon, in the area of the olfactory triangle, substantia perforata anterior and even crus cerebri can be exposed best using the subfrontal approach. The author believes that in many cases of these malformations regarded usually as inoperable, radical operation can be done with selective removal of angioma by means of microsurgery. This procedure was applied in 2 cases (Fig. 2 and 3).

Adolescent↗
PubMed2002

[A case of brainstem encephalitis diagnosed by stereotactic biopsy].

Brainstem encephalitis is a rare form of encephalitis which should be differentiated from cerebrovascular and neoplastic diseases. The authors report a case of viral brainstem encephalitis mimicking malignant lymphoma. A 55-year-old female was admitted to our hospital with gradually progressive diplopia and left hemiplegia. CT scan revealed low density lesions in the right globus pallidus and the anterior limb of the internal capsule. MRI demonstrated high intensity signals extending into the right cerebral peduncle, temporal lobe, thalamus and the contralateral thalamus on FLAIR images. Petechial hemorrhages were seen in the affected lesions, but no enhancement was observed following administration of a contrast material. CSF examination revealed mild mononuclear cell dominant pleocytosis. Both early and delayed images of 123I-IMP SPECT revealed marked hot spots corresponding to the lesions on FLAIR images. CT-guided stereotactic biopsy was useful for early diagnosis.

Biopsy↗
PubMed1975

[Evolution of the astroglial reaction in the pyramidal pathway after injury of the rat motor cortex].

Investigation of astrocytes in the pyramidal tract of the rat 2 to 100 days after a lesion of the motor cortex indicates that the glial reaction, with increase in size of astrocytes and in affinity for Cajal's gold-sublimate, begins at the lesion and extends to the distal segments of the spinal cord. But this reaction recedes and disappears in lumbar and dorsal cord about 70 days after the operation. It persists in the cervical cord and in the brain. On the other hand, a characteristic increase in activity of glutamate andglucose-6-phosphate dehydrogenases is restricted to the vicinity of the lesion and does not even encroach upon the posterior limb of the internal capsule.

Animals↗
PubMed2002

Calcium-binding proteins in the human developing brain.

Recent studies have demonstrated that antibodies against the calcium-binding proteins (CaBPs) parvalbumin (PV), calbindin (CB), and calretinin (CR) are appropriate tools for demonstrating transient features and developmental changes of human fetal brain organization as well as for detecting specific alterations in pathologically altered specimens. CB and CR are abundantly expressed in various nerve cell types of the subplate in the second half of gestation. The subplate being an outstandingly wide zone subjacent to the cortical plate, it is a "waiting compartment" for various cortical afferents that reside here prior to entering the cortical plate. The cortical plate (future layers II-VI of the cerebral cortex) contains only CR-ir neurons until the 6th gestational month. In the 7th and 8th month, cortical CB- and PV-ir interneurons are observed in deeper portions of the cortical plate. Cajal-Retzius cells of layer I are CR-immunolabeled from the 4th month onwards. Fetal hydrocephalus causes severe alterations of CB- and PV-ir neurons in the subplate and the cortical plate: shrinkage of ir neurons, loss of process labeling and in most severe cases, entire loss of immunolabeling. Such alterations, which cannot be detected in Nissl-stained sections, indicate distinct impairment of neuronal function. The ganglionic eminence being a prominent part of the telencephalic proliferative zone persists nearly throughout the entire fetal period. Between 16 and 24 weeks of gestation, CR-ir cells are found in the center and, in a higher number, in the periphery, i.e., the mantle zone, of the ganglionic eminence. The mantle zone also exhibits CB-ir cells. These observations support experimental data showing that CR-ir precursor cells leave the ganglionic eminence to migrate towards the cerebral cortex. The CR- and CB-ir neurons of the mantle zone most probably represent an intermediate target for outgrowing axons. This notion is supported by the observation that SNAP (synaptosomal associated protein) 25-ir fibers coming from the intermediate zone terminate upon CR-ir cells in the mantle zone. Within the amygdaloid complex, immature, migrating CR- or CB-ir neurons are observed in the 5th and 6th gestational month. In the 8th and 9th month, anti-CR and anti-CB mark different subsets of interneurons as well as a small proportion of pyramidal projection neurons. The different subsets of interneurons are likely to be functionally different with regard to their connectivities. Considering studies in the literature, it is obvious that CR is transiently expressed in pyramidal cells. Moreover, diffuse (neuropil) CB and CR immunolabeling, which is found in different intensities in the various amygdaloid subdivisions, displays distinct redistribution during development, an observation indicating reorganization of afferent inputs. The sequential arrival of various afferent fiber systems in the two compartments of the striatum (patch and matrix compartment) is reflected by changing patterns of diffuse CB immunolabeling: During the second half of gestation, the patches are labeled and postnatally a changeover to matrix labeling is seen. The thalamic reticular complex reveals prominent transient features seen in PV and CR immunopreparations. Four subdivisions become obvious: the main portion, the perireticular nucleus, the medial subnucleus, and the pregeniculate nucleus. The PV- and CR-ir perireticular nucleus, not visible in the mature brain, is a distinct fetal entity located within the internal capsule. The main portion of the reticular complex is much more prominent in the fetus than in the adult and displays transitory CR expression. The most probable developmental role of the reticular complex is to provide guiding cues for outgrowing axons from or into the dorsal thalamus. The basal nucleus of Meynert and the hypothalamic tuberomamillary nucleus both provide extrathalamic projections to the cerebral cortex. The sequential differentiation of the two nuclei can be demonstrated using anti-CB and anti-PV. The basal nucleus strongly expresses CB and appears to be mature distinctly earlier than the PV-ir tuberomamillary nucleus. Antisera against CaBPs clearly demonstrate that the magnocellular part of the red nucleus located in the mesencephalic tegmentum is outstanding in the fetal and perinatal brain and inconspicuous in the adult. In particular, CB is the most abundant CaBP in this portion of the red nucleus. The dominance of the magnocellular part over the parvocellular part may be a substrate for a specific transitory pattern of motor behavior. On the whole, CaBPs mark the transient architectonic organization of the brain, which is involved in the establishment of transitory neuronal circuitries. The latter are essential for the formation of mature projections. Detailed data on the normal organization of the transient structures are required for the evaluation of alterations occurring in the fetal and perinatal brain. The transient structures are sites of predilection for alteration caused by hypoxia-ischemia, hemorrhage, or hydrocephalus.

Brain↗
PubMedDate not supplied

[Infantile neuro-axonal dystrophy: anatomo clinical study of one case (author's transl)].

A case of Seitelberger's infantile neuroaxonal dystrophy (a rare familial neurologic disease of childhood) is described. The clinical picture is characterized by a progressive deterioration of psychomotor functions leading to flaccid paraplegia with hypotonia of axial muscles, complete involution of language, and total loss of communication with the external world; death due to recurrent unassociated disease occurred at the age of 4 years. Histology showed numerous axonal spheroids mainly in the gray matter of the C.N.S. and plurisystemic degenerations of the motor and sensory systems, of the cerebellum, of the basal ganglia, and of specific sensory system such as the optic and (reported here for the first time) of the olfactory and acoustic systems. In particular, the main histopathological findings included: 1) a characteristic distribution of axonal swellings prevailing in the posterior horn of the spinal cord and in the dorsolateral portions of the medulla oblongata, mainly at the level of the sensory nuclei; 2) demyelinization of the pyramidal tracts and of the ascendings pathways of the sensory system with fibrillar gliosis and myelin breakdown products in some areas (internal capsule, pes pedunculi, VPL thalamic nuclei); 3) severe cerebellar atrophy with almost complete loss of granule and Purkinje cells and marked fibrillary gliosis; 4) presence of enormous amount of sudanophilic lipids in the striatum and pallidum; 5) optic, acoustic and olfactory system degeneration with demyelinization and gliosis at all levels examined and, in particular, sudanophilic lipid deposition in the optic radiations, trigone, and olfactory striae. The discussion emphasized the dying-back type of evolution of the degenerative process insofar as a) the spheroids represent a peculiar alteration of presynaptic endings (as demonstrated by electron microscopy) prevailing at the first sensory neuron, and b) in all systems involved, the degeneration is most marked at distal levels. The striato-pallidal lipophanerosis suggests that the sudanophilic lipids are, here as in other systems, parenchymal degeneration products. On the other hand, there are still many unresolved problems in this rare and complex disease, such as a) the predilection of the lesions for the sensory systems which in our case involved all three special senses; b) the extreme cerebellar atrophy; and c) the etiopathogenetic substrate of the process. All biochemical and histochemical studies have not yielded any results up to the present.

Age Factors↗