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Am J Med Genet A. 2007 Oct 1;143A(19):2256-60.

Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.

Author information

1
Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA. randi.hagerman@ucdmc.ucdavis.edu

Abstract

Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot-Marie-Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between FXTAS and neuropathy has been suggested by the presence of lamin A/C in the intranuclear, neuronal and astrocytic inclusions of FXTAS, since mutations in lamin A/C are known to give rise to an axonal form of CMT.

PMID:
17726686
DOI:
10.1002/ajmg.a.31920
[Indexed for MEDLINE]
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