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D Pareyson

Publications and source records attributed to D Pareyson.

At least 19 recordsLinked to original sources
PubMed2006

Childhood-onset multifocal motor neuropathy with conduction blocks.

Multifocal motor neuropathy (MMN) is an acquired disorder with onset in adulthood. The authors describe a patient with a slowly progressing distal upper limb motor neuropathy since age 6 years, in whom definite conduction blocks in upper limbs, outside common entrapment sites, and no sensory involvement were consistent with MMN. IV immunoglobulin treatment produced marked muscle strength improvement and conduction block disappearance. MMN diagnosis should also be considered in childhood.

Age of Onset↗
PubMed2006

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.

Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype-phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.

Adult↗
PubMed2006

Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study.

The purpose of this study was to assess the variables that influence quality of life (QoL) and disability in patients with Charcot-Marie-Tooth disease (CMT). We performed a prospective multicentre study using validated clinical disability and QoL measurements. Multivariate analysis was performed using QoL as a dependent variable and duration of symptoms, age, gender and CMT type, depression and disability measurements as independent variables. We enrolled 211 patients. QoL was highly significantly deteriorated with respect to the Italian normative sample. The physical aspect of QoL was mainly related to disability but it does not increase with the age, probably because of an adaptation between expectation and reality. The mental QoL is influenced by depression (hence we have to consider this aspect approaching CMT patients). Moreover, we observed that women complained of more severe symptoms than men. Finally, some CMT subtypes are related to more severe bodily pain symptoms than others. Multiperspective assessment of CMT showed new aspects of this disease, mainly regarding (1) differences between men and women and (2) the crucial role of pain and depression.

Adolescent↗
PubMed2006

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype, characterized by distal limb muscle wasting and weakness, usually with skeletal deformities, distal sensory loss, and abnormalities of deep tendon reflexes. Mutations of genes involved in different functions eventually lead to a length-dependent axonal degeneration, which is the likely basis of the distal predominance of the CMT phenotype. Nerve conduction studies are important for classification, diagnosis, and understanding of pathophysiology. The subdivision into demyelinating CMT1 and axonal CMT2 types was a milestone and is still valid for the majority of patients. However, exceptions to this partition are increasing. Intermediate conduction velocities are often found in males with X-linked CMT (CMTX), and different intermediate CMT types have been identified. Moreover, for some genes, different mutations may result either in demyelinating CMT with slow conduction, or in axonal CMT. Nerve conduction slowing is uniform and diffuse in the most common CMT1A associated with the 17p12 duplication, whereas it is often asymmetric and nonhomogeneous in CMTX, sometimes rendering difficult the differential diagnosis with acquired inflammatory neuropathies. The demyelinating recessive forms, termed CMT4, usually have early onset and run a more severe course than the dominant types. Pure motor CMT types are now classified as distal hereditary motor neuronopathy. The diagnostic approach to the identification of the CMT subtype is complex and cannot be based on the clinical phenotype alone, as different forms are often clinically indistinguishable. However, there are features that may be of help in addressing molecular investigation in a single patient. Late onset, prominent or peculiar sensory manifestations, autonomic nervous system dysfunction, cranial nerve involvement, upper limb predominance, subclinical central nervous system abnormalities, severe scoliosis, early-onset glaucoma, neutropenia are findings helpful for diagnosis.

Charcot-Marie-Tooth Disease↗
PubMed2004

Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.

The diagnosis of Charcot-Marie-Tooth disease (CMT) and related neuropathies (e. g. Déjèrine-Sottas disease; hereditary neuropathy with liability to pressure palsies) appears to be easy. However, the incredible advances in molecular genetics have greatly complicated the classification of these disorders, and the proper diagnosis of the CMT subtype may be important for correct genetic counselling and prognosis. Moreover, these diseases may be confused with potentially treatable acquired and inherited neuropathies, such as dysimmune neuropathies, familial amyloid polyneuropathy, and Refsum's disease. A number of clinical, laboratory, electrophysiological, morphological and neuroradiological features that may help in the diagnostic process are reviewed in the present paper. DNA investigations are fundamental but need to be properly addressed. Currently, great interest is focused on the role of the immune system in hereditary neuropathies, and surprising findings are coming from research on animal models.

Charcot-Marie-Tooth Disease↗
PubMed2004

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disorder due to mutations in the alpha-tocopherol transfer protein (TTPA) gene on chromosome 8q13. AVED patients have progressive spinocerebellar symptoms and markedly reduced plasma levels of vitamin E. We studied neurological phenotype at diagnosis, and long-term effect of vitamin E supplementation in 16 patients from 12 Italian families. The most common mutations were the 744delA and 513insTT. Two novel TTPA mutations were identified: a severe truncating mutation (219insAT) in a homozygous patient, and a Gly246Arg missense mutation (G246R) in a compound heterozygous patient. The missense mutation was associated with a mild and slowly progressive form of the disease. Vitamin E supplementation therapy allowed a stabilization of the neurological conditions in most of the patients. However, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy. Prompt genetic characterization of AVED patients may allow an effective early treatment and an adequate genetic counseling.

Adolescent↗
PubMed2003

Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies.

OBJECTIVE: To correlate the density of swellings in intraepidermal nerve fibers (IENF) with the longitudinal measurement of the epidermal innervation density in patients with painful neuropathy and to assess the predictive value of IENF swelling to progression of neuropathy. METHODS: Fifteen patients with persistent pain in the feet underwent neurologic examination, nerve conduction studies, quantitative sensory examination, and skin biopsies at proximal thigh and distal leg. In all patients and in 15 healthy subjects, IENF density and swelling ratio (no. swellings/no. IENF) were quantified at distal leg. Follow-up study, including IENF density and swelling ratio quantification, was performed a mean of 19.2 months later. Double staining confocal microscope studies using anti-human protein-gene-product 9.5, anti-tubule, anti-neurofilament, and anti-synaptophysin antibodies were performed to assess specific accumulation within swellings. Ultrastructural investigation of IENF was also carried out. RESULTS: Patients with neuropathy had lower density of IENF and higher swelling ratio than healthy subjects (p < 0.01) at distal leg. At follow-up, patients showed a parallel decrease in both IENF density (p = 0.02) and swelling ratio (p = 0.002). However, swelling ratio remained higher (p = 0.03) than in controls. Progression of neuropathy was confirmed by the decay in sural nerve sensory nerve action potential amplitude. Double immunostaining studies suggest accumulation of tubules and ubiquitin-associated proteins within swellings. Swollen and vacuolated IENF were identified in patients with neuropathy by conventional and immuno-electron microscopy. CONCLUSIONS: Increased swelling ratio predicted the decrease in IENF density in patients with painful neuropathy. Its quantification could support earlier diagnosis of sensory axonopathy.

Adult↗
PubMed2003

[Diagnosis of hereditary neuropathies in adult-subjects].

The clinical approach to hereditary neuropathies of adulthood has become very complex. The following issues are reviewed: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. It is useful to identify different phenotypes according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth (CMT) disease, familial amyloid polyneuropathy (FAP), hereditary sensory and autonomic neuropathy, Fabry disease, Tangier disease, porphyric neuropathies, Refsum disease, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary neuralgic amyotrophy and other rare disorders involving the peripheral nervous system are reviewed.

Adult↗
PubMed2002

Spinal radiological findings in nine patients with spontaneous intracranial hypotension.

Cranial magnetic resonance imaging (MRI) findings in spontaneous intracranial hypotension (SIH) are well known, while spinal studies have received less attention. Radiological spinal findings in nine patients with SIH are presented, looking for possible characteristic features. Five of the nine patients had histories of previous minor trauma, one of previous surgery; in three patients possible relevant preceding events were completely absent. All nine patients had cervical, seven thoracic, and four lumbar spine MRI studies; post-contrast studies were obtained in seven cases, MRI myelograms in five. Radioisotope myelocisternography was performed in four patients and myelo-CT in four. Epidural fluid collections were found in seven patients. In six cases the dural sac had collapsed, with a festooned appearance; intense epidural enhancement on post-contrast studies demonstrated marked dilatation of the epidural venous plexus. In three cases an irregular root sleeve suggested a possible point of cerebrospinal fluid (CSF) leakage. Myelo-CT demonstrated the CSF fistula in two cases, radioisotope myelocisternography in three. The pattern of spinal abnormalities is different from that seen in cranial MRI for anatomical reasons: in the spinal canal the dura is not adherent to the bone; therefore, collapse of the dural sac and dilatation of epidural venous plexus occur, rather than subdural hematomas. In most cases the search for the dural tear is difficult. Radioisotope cisternography is probably the most sensitive examination for documenting the leakage of CSF out of the subarachnoid space; myelo-CT may precisely demonstrate the point of the CSF fistula, whereas MRI may only suggest it.

Adult↗
PubMed2001

Epidermal nerve fiber density in sensory ganglionopathies: clinical and neurophysiologic correlations.

We assessed the involvement of somatic unmyelinated fibers in sensory ganglionopathies by skin biopsy and quantitative sensory testing (QST). Sixteen patients with ganglionopathy, 16 with axonal neuropathy, and 15 normal controls underwent skin biopsy at the proximal thigh and the distal leg. Intraepidermal nerve fibers (IENF) were immunostained by antiprotein gene product 9.5, and their linear density was quantified under light microscopy. Confocal microscopy studies with double staining of nerve fibers and basement membrane were also performed. Healthy subjects and neuropathy patients showed the typical proximodistal gradient of IENF density; in neuropathies, values were significantly lower at the distal site of the leg, confirming the length-dependent loss of cutaneous innervation. Conversely, ganglionopathy patients with hyperalgesic symptoms did not show any change of IENF density between the proximal thigh and the distal leg. The distinct pattern of epidermal denervation seen in sensory ganglionopathy reflected the degeneration of somatic unmyelinated fibers in a fashion that was not length-dependent, which was consistent with both clinical and neurophysiologic observations and supported the diagnosis.

Biopsy↗
PubMed2000

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.

Adult↗
PubMed2000

Imaging and outcome in severe complications of lumbar epidural anaesthesia: report of 16 cases.

We reviewed the clinical and neuroradiological features in 16 patients with serious neurological complications of lumbar epidural anaesthesia. We observed acute, transient or permanent and delayed complications. Four patients had symptoms immediately after the procedure. One patient developed a subacute flaccid paraparesis. Two other patients had infectious spondylodiscitis at lumbar puncture level. Eight patients had a delayed progressive spastic paraparesis and were found to have subarachnoid cysts and irregularities of the surface of the spinal cord consistent with arachnoiditis; six of them had an extensive, complex syrinx within the cord. One patient had a severe lumbar polyradiculopathy, and MRI showed adhesive arachnoiditis involving the cauda equina. Although epidural anaesthesia is generally considered safe, rare but severe complications, such as radiculopathy, infectious disease, myelopathy from ischemia and arachnoiditis with a syrinx may occur. The patients with arachnoiditis had a relentless progression of the disease and a poor outcome: five are confined to a wheelchair, one is bedridden. Complications of epidural anaesthesia are easily recognised when they develop immediately; their relationship to the anaesthesia may be ignored or underestimated when they appear after a delay. Awareness of the possibility of delayed complications is important.

Adolescent↗