title: [Two cases of familial spastic paraparesis with amyotrophy of the hands].
abstract: Familial spastic paraparesis with amyotrophy of the hands was reported, and its significance in the literature was reviewed. Case 1: An 18 year-old boy, who had been suffering from spastic gait since 12 years old, noticed his hand muscle wasting distributed bilateral first interosseous muscle, thenar and hypothenar muscle at age 17. Case 2: A 20 year-old man, elder brother of case 1, who also walked in spastic manner from his childhood, developed bilateral hand muscle atrophy similar to case 1 at age 19. Clinical features of these two cases could be summarized as familial spastic paraparesis with amyotrophy characterized by hand muscle atrophy, spasticity of lower extremities with hyperreflexia and bilateral positive pathological reflexes and spastic gait. Their younger sister was also examined, who showed only minimal spastic paraparesis. The electrophysiological examination including EMG and SEP suggested the pathological process could involve not only lateral column, but also posterior column and anterior horn. Slight but generalized spinal cord atrophy was demonstrated on metrizamide CT myelography. The muscle biopsy performed from left gastrocnemius in case 2, confirmed neurogenic changes. Although the association of retinal degeneration, cataracta, mental retardation, pes cavus or even generalized amyotrophy has been reported in familial spastic paraparesis, only limited cases are available, dealing with the amyotrophy of limbs. As far the cases with amyotrophy localized to the hands are concerned, it is absolutely rare and only the cases reported by Silver could be regarded as similar or same clinical entities to our cases.
authors.affiliation: Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
authors.forename: F
authors.initials: F
authors.lastname: Moriwaka
authors.forename: N
authors.initials: N
authors.lastname: Fujiki
authors.forename: K
authors.initials: K
authors.lastname: Ito
authors.forename: S
authors.initials: S
authors.lastname: Honma
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: S
authors.initials: S
authors.lastname: Doi
mesh_terms: D000293:Adolescent; D000328:Adult; D004576:Electromyography; D005073:Evoked Potentials, Somatosensory; D006225:Hand; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications*; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000209:etiology / Q000503:physiopathology; D009192:Myelography; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics