Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
نویسندگان
چکیده
منابع مشابه
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (...
متن کاملAutosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.
A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still...
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Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly ea...
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Two Japanese persons with consanguinous parents had a motor and sensory neuropathy of the hypertrophic type with excessive myelin outfolding in the myelinated fibers. A morphometric analysis of the biopsied sural nerve was made. Excessive myelin outfolding, segmental demyelination, and remyelination and decrease in the density of both large and small myelinated fibers were evident. Using linear...
متن کاملNonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
PURPOSE To define the phenotype and elucidate the molecular basis for an autosomal recessively inherited optic atrophy and auditory neuropathy in a consanguineous family with two affected children. METHODS Family members underwent detailed ophthalmologic, electrophysiological, and audiological assessments. An autozygosity mapping strategy using high-density single nucleotide polymorphism micr...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1997
ISSN: 0022-3050
DOI: 10.1136/jnnp.62.4.385