Hereditary spastic paraplegia associated with axonal neuropathy

A novel mutation of SPG3A in a large family

Almundher Al-Maawali, Arndt Rolfs, Michael Klingenhaeger, Grace Yoon

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. This expands the spectrum of neurologic complications associated with SPG3A and highlights the importance of long-term follow-up and neurological surveillance in this patient population.

Original languageEnglish
Pages (from-to)143-146
Number of pages4
JournalJournal of Clinical Neuromuscular Disease
Volume12
Issue number3
DOIs
Publication statusPublished - Mar 2011

Fingerprint

Hereditary Spastic Paraplegia
Mutation
Paraplegia
Nervous System
Population
Genes

Keywords

  • atlastin
  • axonal neuropathy
  • hereditary spastic
  • HSP
  • paraplegia
  • SPG3A

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Hereditary spastic paraplegia associated with axonal neuropathy : A novel mutation of SPG3A in a large family. / Al-Maawali, Almundher; Rolfs, Arndt; Klingenhaeger, Michael; Yoon, Grace.

In: Journal of Clinical Neuromuscular Disease, Vol. 12, No. 3, 03.2011, p. 143-146.

Research output: Contribution to journalArticle

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