Familial spastic paraplegia with amyotrophy of the hands

Abstract

Summary Two unrelated British families suffering from a distinctive form of familial spmtic paraplegia associated with wasting of the hands are described. I wish to record my gratitude for the encouragement and advice that I received from Dr Michael Kremer, under whose care the patients were admitted and investigated. I would like to thank Prof. Lionel Penrose, who throughout the investigation helped and advised me on the genetic aspects of the work. I wish also to thank Mr Ainslie and Mr Goldsmith for referring the propositus Mr A.; Mr Northfield and Lord Brain for allowing me to quote from their original notes on Mrs R. when she attended the London Hospital; Miss Ruth Marshall for carrying out the blood‐group studies; Dr Julia Bell and Dr A. Carmichael for discussing these families with me; Mr Frank Beck for translating the German papers quoted, and Dr Russell Doggart for his advice and criticism.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

“…The phenotype of CMT2D is thus similar to dHMN-V [4]. Silver syndrome (SS) is a rare motor neuron disease which also frequently resembles a dHMN-V phenotype as patients often show prominent amyotrophy of the small hand muscles [5]. The presence of mild to severe pyramidal tract signs is common in dHMN-V and SS whereas they have rarely been observed in patients with CMT2D [1,2,5,6].…”

“…Silver syndrome (SS) is a rare motor neuron disease which also frequently resembles a dHMN-V phenotype as patients often show prominent amyotrophy of the small hand muscles [5]. The presence of mild to severe pyramidal tract signs is common in dHMN-V and SS whereas they have rarely been observed in patients with CMT2D [1,2,5,6]. Initially, the presence of spastic paraparesis has led to the subclassification of SS among the group of hereditary spastic paraplegias (HSP) and SS was thus termed as SPG17 [7].…”

Hereditary spastic paraplegia from 1880 to 2017: an historical review

“…His observations were accompanied by many case series describing pleomorphic clinical pictures encompassing: retinal degeneration 22,23 , dementia 24 , extrapyramidal symptoms 25 , mental handicap 26 , hand amyotrophy 27 and other features. The term Strümpell' s familial spastic paraplegia was reserved for families that displayed only spastic paraparesis, a condition that was thought to be much rarer 28 .…”

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.…”