Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Brain-stem auditory evoked potentials (BAEPs) were tested in 34 patients with hereditary motor and sensory neuropathy (HMSN), most of which with HMSN type I with the autosomal dominant type of inheritance. In only a few cases a recessive or sporadic form of the disease was diagnosed, and one patient was rated as HMSN type III. In 44% complicated forms with signs of CNS involvement (cerebellar manifestation, nystagmus or cranial nerve lesions) were ascertained. BAEPs tests revealed slightly, albeit non-significantly prolonged wave III latency while wave V latency was significantly prolonged and so was the interpeak interval of waves III-V. One third of the records showed a prominent decrease in wave V amplitude.
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PMID:BAEPs in hereditary motor-sensory neuropathies. Involvement of central brain-stem parts of the auditory pathway. 246 73

Seven patients with hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA) are presented. This is the first comprehensive evaluation of what is a unique disorder, half way between the cerebellar atrophies and the hereditary motor and sensory neuropathies. In addition to cerebellar ataxia and peripheral neuropathy, the most frequent features in HMSNCA were nystagmus, dysarthria, mental impairment and tremor. Pyramidal signs or autonomic nerve dysfunction was never revealed. Scoliosis or kyphoscoliosis was not noted. Progression of the disorder was very slow, most of the patients being ambulatory more than 10 years after the onset. Most of the patients had hypoalbuminemia. Half-life periods of serum albumin were normal and decreased synthesis of albumin in the liver was suspected. An autosomal recessive inheritance was strongly suggested, because of healthy consanguineous parents and affected siblings in these families. The segregation ratio was 0.32 +/- 0.10 and was close to the expected ratio of 0.25 in an autosomal recessive inheritance.
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PMID:Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease. 858 17