Autosomal recessive forms of hereditary motor and sensory neuropathy.
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 earlier for the type II cases but did not differ for the type I patients. Motor nerve conduction velocity was significantly less for the type I cases but did not differ for the type II form. The recessive type I cases tended to show a greater incidence of weakness, ataxia, tendon areflexia and scoliosis than in the dominant form. The importance of differentiating such cases from Friedreich's ataxia is emphasised.
14 references, click to expand
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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.Arch Neurol. 1968 Jun;18(6):603-18 PMID: 4297451
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.Arch Neurol. 1968 Jun;18(6):619-25 PMID: 5652992
-
Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy.Acta Neuropathol. 1969;13(2):131-42 PMID: 4308892
-
A recessively inherited mixed polyneuropathy of early onset.J Med Genet. 1969 Dec;6(4):411-2 PMID: 5365950
-
Histologic and lipid studies of sural nerves in inherited hypertrophic neuropathy: preliminary report of a lipid abnormality in nerve and liver in Dejerine-Sottas disease.Mayo Clin Proc. 1970 Apr;45(4):286-327 PMID: 4314714
-
Hereditary hypertrophic neuropathy. Report of two cases of an autosomal recessive variant.Bull Los Angeles Neurol Soc. 1970 Apr;35(2):58-68 PMID: 4314732
-
Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro.Mayo Clin Proc. 1971 Jun;46(6):432-6 PMID: 5088981
-
Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity.J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):68-75 PMID: 4813428
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease.Clin Genet. 1974;6(2):98-118 PMID: 4430158
-
Recessively inherited Charcot-Marie-Tooth syndrome in identical twins.Birth Defects Orig Artic Ser. 1971 Feb;7(2):105 PMID: 5173114
-
A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies.Arch Neurol. 1977 Jun;34(6):337-45 PMID: 871259
-
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification.J Genet Hum. 1978 Dec;26(4):311-49 PMID: 752065
-
Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.Ann Neurol. 1979 Jun;5(6):515-22 PMID: 475348
-
The clinical features of hereditary motor and sensory neuropathy types I and II.Brain. 1980 Jun;103(2):259-80 PMID: 7397478
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