Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy

Abstract

THIS report gives the neurologic, genetic, and electrophysiologic findings of a prospective study of kinships with different hereditary neurologic disorders having symmetric neurogenic weakness and atrophy as an early-and often major manifestation. The study was undertaken to obtain more reliable information about the natural history of these disorders, to test the usefulness of electro physiologic studies in distinguishing affected from nonaffected persons, to compare the results of nerve biopsies from representative affected persons with these disorders, and to develop a more meaningful classification. In this, the first of two articles on the subject, the results of neurologic, genetic, and electrophysiologic studies of 67 persons with hypertrophic neuropathy of the Charcot-Marie\x=req-\ Tooth type, five persons with hypertrophic neuropathy of the Dejerine-Sottas type, and 150 unaffected relatives are given. We also wished to determine whether these syndromes were phenotypic variations of one or several diseases or were separate entities on the basis of natural history, inheritance, cerebrospinal fluid (CSF) findings, electrophysiologic studies, and histology of nerves.

CSCI/RCPSC Henry Friesen Lecture: The Past and the Future of Neurogenetics

“…For example, Peter Dyck and colleagues categorized the hereditary motor and sensory neuropathies in HSMN type 1 (the demyelinating form) and type 2 (the axonal form) with the aid of EMG. 6 The invention of computed tomography by GN Hounsfield in 1972 was a major development in medicine, in particular in neurology where it allows for a view inside the cranium. A few years later Ernst and Edelstein (Nobel Prize 1992) developed magnetic resonance imaging (MRI), which allowed greater definition of the brain, particularly in diseases of the posterior fossa and the spinal cord.…”

Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia

“…В зависи-мости от скорости распространения возбуждения (СРВ) по срединному нерву принято выделять 2 основ-ТОМ 6 VOL. 6 Нервно-мышечные Б О Л Е З Н И Neuromuscular DISEASES Клинический разбор ных типа НМСН: демиелинизирующий (СРВ < 38 м / с) и аксональный (СРВ в пределах контрольных значе-ний) [4][5][6][7]. Кроме того, описаны семьи, в которых отмечена диссоциация показателей СРВ по срединно-му нерву от 25 до 45 м / с, что дало основание выделять промежуточный вариант НМСН.…”

Hereditary Distal Dominant Amyotrophy Followed bySpastic Paraplegia.

“…Familial cases with a clinical syndrome of autosomal dominant distal amyotrophy and pyramidal signs have rarely been reported (1)(2)(3)(4)(5)(6)(7). Very slow progression is characteristic of the disorder.…”

“…Very slow progression is characteristic of the disorder. Fromthe nosological standpoint, some patients have been referred to as hereditary motor and sensory neuropathy (HMSN)type V (3,5,7,8), and others as hereditary spastic paraplegia (1,2,4,6). We recently had five patients from two families with such manifestations, and could examine two generations in each family.…”