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Hereditary Spastic Paraplegia

Hereditary Spastic Paraplegia EDITORIAL Spastin Phenotype and Function HE HEREDITARY SPASTIC PARAPLEGIAS ment, thin corpus callosum, and cerebellar atrophy. Al- (HSPs) are rapidly being understood as a though thin corpus callosum and mental retardation are large group of genetically heterogeneous frequent features of SPG11 HSP (see recent re- 16,17 disorders in which the predominant views ), which is perhaps the single most common au- T clinical feature is gait disturbance due to tosomal recessive type of HSP, they have not been as- lower-extremity spasticity and weakness. The degree of sociated with SPG4 HSP. It is possible that these features severity and manner of progression are often quite vari- in the kindred described by Orlacchio et al are specifi- able between different genetic types of HSP, between cally associated with the novel SPG4 mutation (N386S) different families with the same genetic type of HSP, they discovered in these subjects. Nonetheless, these find- and between affected subjects from the same family ings provide further evidence that extraspinal involve- who share exactly the same HSP gene mutation. Pres- ment in general and cognitive disturbance in particular ently, genetic loci (designated SPG1 through SPG23 in occur in a proportion of patients with SPG4 HSP. order of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Neurology American Medical Association

Hereditary Spastic Paraplegia

JAMA Neurology , Volume 61 (6) – Jun 1, 2004

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Publisher
American Medical Association
Copyright
Copyright 2004 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6149
eISSN
2168-6157
DOI
10.1001/archneur.61.6.830
pmid
15210518
Publisher site
See Article on Publisher Site

Abstract

EDITORIAL Spastin Phenotype and Function HE HEREDITARY SPASTIC PARAPLEGIAS ment, thin corpus callosum, and cerebellar atrophy. Al- (HSPs) are rapidly being understood as a though thin corpus callosum and mental retardation are large group of genetically heterogeneous frequent features of SPG11 HSP (see recent re- 16,17 disorders in which the predominant views ), which is perhaps the single most common au- T clinical feature is gait disturbance due to tosomal recessive type of HSP, they have not been as- lower-extremity spasticity and weakness. The degree of sociated with SPG4 HSP. It is possible that these features severity and manner of progression are often quite vari- in the kindred described by Orlacchio et al are specifi- able between different genetic types of HSP, between cally associated with the novel SPG4 mutation (N386S) different families with the same genetic type of HSP, they discovered in these subjects. Nonetheless, these find- and between affected subjects from the same family ings provide further evidence that extraspinal involve- who share exactly the same HSP gene mutation. Pres- ment in general and cognitive disturbance in particular ently, genetic loci (designated SPG1 through SPG23 in occur in a proportion of patients with SPG4 HSP. order of

Journal

JAMA NeurologyAmerican Medical Association

Published: Jun 1, 2004

References