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PubMed1972

Pathology of peroneal muscular atrophy (Charcot-Marie-Tooth disease).

Four cases of peroneal muscular atrophy (Charcot-Marie-Tooth disease) are described in which observations were made from the necropsy examination of the central nervous system, the peripheral nervous system, and the skeletal muscles. The pattern of nerve degeneration in these various locations is described and the conclusion is drawn that the basis of the disease is a very chronic progressive neuropathy. To the pathological descriptions of previous observers is added the finding of fibrosis affecting the muscle spindles which was present in all four of the cases. The literature of the case reports with necropsy examination is reviewed.

Adult↗
PubMed1988

[Skin changes in syringomyelia].

Asymmetric anonychia, skin edema, and painless ulceration of the fingers may be the first symptoms of syringomyelia. Neurologic examination of the patient leads to the diagnosis, which can be proved by the demonstration of the cavity in the central spinal cord. Prophylactic dermatologic treatment may prevent the progression of the skin lesions.

Biopsy↗
PubMed1985

Electrophysiologic studies in the diagnosis and prognosis of motor neuron diseases.

The identification and characterization of motor neuron diseases, such as amyotrophic lateral sclerosis, can be much enhanced by electrodiagnostic testing. Combinations of needle electromyography, nerve conduction studies, and other techniques can not only confirm the diagnosis or identify the presence of unsuspected disease, but can also provide clues to the rate of progression and prognosis.

Amyotrophic Lateral Sclerosis↗
PubMedDate not supplied

Bone resorption of the mandible in progressive systemic sclerosis.

Five of 16 patients with progressive systemic sclerosis were found to have bone resorption at the angle of the mandible. This finding appears to be closely related to the tightness of the skin of the face, atrophy of the masseter and pterygoid muscles, small size of the oral orifice, and a significantly high frequency in blacks. The mandible must therefore be added to the list of those bones that can be resorbed in progressive systemic sclerosis.

Adolescent↗
PubMed1990

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.

Forty-three patients with hereditary motor system diseases belonging to 17 families were studied. The clinical features consisted of a bilateral pyramidal syndrome, weakness with atrophy and fasciculation of the hands and/or the legs, with or without a bulbar or a pseudobulbar syndrome and without sensory disturbance. Electromyography in 31 cases (including all index cases) showed evidence of denervation. Motor and sensory nerve conduction velocity was normal; sensory nerve action potential amplitudes, examined in 11 cases, were also normal. Nerve and muscle biopsies taken in 29 cases (including all index cases) showed neurogenic atrophy in the peroneus brevis muscle and minor changes only in the superficial peroneal nerve. The mean age of onset was 12.06 (range 3-25 years), and progression was very slow. Inheritance appeared to be autosomal recessive. Depending on the clinical presentation, the patients were subdivided into three groups comprising (1) upper limb and sometimes bulbar amyotrophy with a bilateral pyramidal syndrome (17 patients: 11 familial and 6 isolated); (2) spastic paraplegia with peroneal muscular atrophy (14 patients: 11 familial and 3 isolated); and (3) a spastic pseudobulbar form (12 patients in a large kinship). These entities are discussed and compared with other cases reported in the literature.

Adolescent↗
PubMed1999

Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.

We present the clinical and histopathological features and the diagnostic difficulties encountered in five children affected by a motor neuron disorder other than spinal muscular atrophy. Investigations performed suggested the diagnosis of ponto-cerebellar hypoplasia type 1 (PCH-1). Severe respiratory difficulty was present at birth in two of these children; hypotonia, arthrogryposis, microcephaly and nystagmus were present in all. Early and progressive bulbar involvement with swallowing difficulties and stridor was also a common feature in these infants. Severe cognitive delay was invariably present. Brain magnetic resonance imaging showed ponto-cerebellar hypoplasia in four children while striking atrophy of the cerebellar vermis and cerebellar hemispheres were present in the fifth child. Electrophysiological and pathological investigations of proximal muscles performed at presentation in all these children were not conclusive, while the post-mortem studies, or the study of distal muscles during life, showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.

Abnormalities, Multiple↗
PubMed1993

[An autopsied case of type 2 Machado-Joseph's disease or spino-pontine degeneration].

The authors present the clinico-pathological findings in a member of a family residing in Akita Prefecture located in the north-eastern region of Japan. Four members in three generations of the family developed ataxia. The autopsied patient was a 42-year-old woman, who, at the age of 25, had developed progressive cerebellar ataxia with pyramidal spasticity and increased deep tendon reflexes predominant in the lower extremities. However, she retained fine movement of the hands and fingers and showed no dysarthria until the age of 35. She could no longer walk unassisted at 38 years old. She showed cerebellar ataxia in both hands and legs, dysarthria, bulging eyes, progressive extraoculomotor palsy with nystagmus, bradykinesia, sensory disturbance, and dystonia in the face, upper extremities, and fingers. Deep tendon reflexes were decreased, especially in the lower extremities. Subacute generalized muscular atrophy developed at the age of 39. She became bedridden and died of pneumonia. The clinical diagnosis was Type-2 of the entity known in Japan as Machado-Joseph disease. At neuropathological examination, the brain weight was 1,250 g. The spinocerebellar system including Clarke's column and the spinocerebellar tracts were degenerated, but the cerebellar cortex and inferior olivary nucleus were spared. Slight-to-moderate degeneration was observed in the pontocerebellar system. In the dentate nucleus, most of the neurons showed what is known in Japan as "grumose degeneration", but there was no neuronal loss or gliosis. The hilus of the dentate nucleus and the superior cerebellar peduncle were intact.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2000

[Molecular basis of spinal muscular atrophy: th SMN gene].

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration and loss of motor neurons of the anterior horn of the spinal cord. The clinical manifestations include proximal symmetric weakness and progressive atrophy of muscle. SMA is classified by age of onset, severity of symptoms, and evolution in three groups: type I, severe or Werdnig-Hoffmann disease, type II or intermediate and type III, moderate-mild, Kugelberg-Welander disease. The identification of the SMN1 gene as determinant of SMA opened new alternatives to study the disease. Most of the patients have deletions and conversion of SMN1 and in a small number of cases, point mutations were detected. There is no obvious genotype-phenotype correlation because homozygous absence of SMN1 was associated to a wide spectrum of manifestations from congenital disease to non symptomatic cases. Modifier factors, such as the number of copies of SMN2, could influence the phenotype. Other possible modifier genes are under study. The SMN gene is expressed in various neuronal populations. However, only motor neurons are responsible for the manifestations of the disease. The SMN protein is part of a complex with various proteins involved in the splicing reaction. This apparent essential function for all cells could be critical in motor neurons. When SMN1 is absent or dysfunctional, the motor neurons could be more sensitive because they have an increased transcription activity. In this situation, other cells and tissues could be protected by genetic or cellular factors still undiscovered.

Alleles↗
PubMed2005

Age-dependent differences in androgen binding affinity in a family with spinal and bulbar muscular atrophy.

OBJECTIVES: To investigate androgen receptor (AR) function in spinal and bulbar muscular atrophy (SBMA). METHODS: A kindred was identified with five individuals carrying the AR gene CAG repeat expansion that causes SBMA. Androgen binding was measured in cultured genital skin fibroblasts from three affected individuals. One newborn, pre-symptomatic, individual showed normal androgen binding, but two older, symptomatic individuals showed a decrease in androgen binding affinity. This difference was not related to AR CAG repeat size, as all affected individuals in this kindred had 49 repeats (normal range 6-35). Post-mortem analysis in one subject confirmed the signs of androgen insufficiency in the testis, with marked seminiferous tubule atrophy, and the absence of germinal cells. The characteristic neuronal depletion in the anterior horn gray matter was also observed. CONCLUSION: This report raises the possibility that age- or puberty-related changes in androgen binding could occur, which could potentially contribute to the progressive development of androgen resistance in affected men.

Adult↗
PubMed2002

Ubiquitin and actin expression in claw muscles of land crab, Gecarcinus lateralis, and American lobster, Homarus americanus: differential expression of ubiquitin in two slow muscle fiber types during molt-induced atrophy.

The closer muscle of large-clawed decapod crustaceans undergoes a proecdysial (premolt) atrophy to facilitate withdrawal of the appendage at ecdysis. This atrophy involves the activation of both calcium-dependent (calpains) and ubiquitin (Ub)/proteasome-dependent proteolytic systems that break down proteins to reduce muscle mass. Moreover, the large slow-twitch (S(1)) fibers undergo a greater atrophy than the small slow-tonic (S(2)) fibers. Both polyUb mRNA and Ub-protein conjugates increase during claw muscle atrophy. In this study in situ hybridization and RT-PCR were used to determine the temporal and spatial expression of polyUb and alpha-actin. A cDNA encoding the complete sequence of lobster muscle alpha-actin was characterized; a probe synthesized from the cDNA provided a positive control for optimizing RT-PCR and in situ hybridization. PolyUb was expressed at low levels in claw closer muscle from anecdysial (intermolt) land crab. By early proecdysis (premolt; stage D(0)), polyUb mRNA levels increased in medial fibers that insert along the midline of the apodeme, with greater expression in S(1) than S(2), while levels remained low in peripheral fibers. By late proecdysis, polyUb mRNA decreased in central fibers, while mRNA increased in peripheral S(1) fibers. In contrast, alpha-actin was expressed in lobster claw muscles at relatively constant levels during the intermolt cycle. These results suggest that Ub/proteasome-dependent proteolysis contributes to enhanced turnover of myofibrillar proteins during claw closer muscle atrophy. Furthermore, atrophy is not synchronous within the muscle; it begins in medial fibers and then progresses peripherally.

Actins↗
PubMed1997

Spinal muscular atrophy in Holstein-Friesian calves.

The clinical and neuropathological findings of spinal muscular atrophy (SMA) in Holstein-Friesian calves are described in four females and one male from a dairy farm composed of 150 cows and 2 breeding bulls. Locomotion difficulties started at the age of 15 days, and progressed to paraparesis and tetraparesis in 2 weeks. Signs consistent with denervation were revealed with electromyography. The neuropathological examination showed degeneration and loss of motor neurons in the spinal cord, together with astrocytosis. Among the remaining motor neurons were ghost cells and neurons filled with accumulations of straight filaments measuring 10-12 nm in diameter, which were strongly immunoreactive with antibodies produced against phosphorylated neurofilaments. Degenerating cells in SMA did not stain with the method of in situ labelling of nuclear DNA fragmentation and did not show c-Jun immunoreactivity. This feature contrasts with the in situ labelling of DNA breaks of apoptotic cells and with the strong c-Jun immunoreactivity restricted to dying cells during the whole process of naturally occurring cell death in the developing central nervous system. These features suggest that cell death in SMA differs from programmed cell death during normal development, and that pathological cell death in SMA should not be considered as a mere persistence or reactivation of normally occurring developmental cell death.

Animals↗
PubMed1986

Hypertrophia musculorum vera in familial ataxia.

A kindred with dominantly inherited ataxia demonstrated hypertrophia musculorum vera as a phenotypic feature of the disease. The proband had fasciculations, cramps, absent sensory nerve action potentials, an increased creatine kinase level, dramatic enlargement of calf muscles, and a muscle biopsy specimen showing denervation accompanied by true muscle fiber hypertrophy; ataxia and other clinical signs of spinocerebellar degeneration were also present. Other family members displayed progressive ataxia and calf muscle enlargement to varying degrees. Though peroneal atrophy is a more common feature of the familial ataxias, some kindreds may have muscle enlargement simulating the pseudohypertrophy of muscular dystrophy that is due instead to denervation-induced compensatory individual fiber hypertrophy.

Adult↗