Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.
The hereditary ataxias represent a clinically and genetically heterogeneous group of neurodegenerative disorders. Various classification schemes based on clinical criteria are being replaced as molecular characterization of the ataxias proceeds; so far, seven distinct autosomal dominant hereditary ataxias have been genetically mapped in the human genome. We report linkage to chromosome 16q22.1 for one of these genes (SCA4) in a five-generation family with an autosomal dominant, late-onset spinocerebellar ataxia; the gene is tightly linked to the microsatellite marker D16S397 (LOD score = 5.93 at theta = .00). In addition, we present clinical and electrophysiological data regarding the distinct and previously unreported phenotype consisting of ataxia with the invariant presence of a prominent axonal sensory neuropathy.
Flanigan
K
K
Department of Neurology, University of Utah Medical Center, Salt Lake City 84112, USA.
Gardner
K
K
Alderson
K
K
Galster
B
B
Otterud
B
B
Leppert
M F
MF
Kaplan
C
C
Ptácek
L J
LJ
D001369:Axons / Q000473:pathology; D002885:Chromosomes, Human, Pair 16; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006239:Haplotypes; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012537:Scandinavian and Nordic Countries / Q000208:ethnology; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D014589:Utah / Q000453:epidemiology; D014959:Wyoming / Q000453:epidemiology
D005819:Genetic Markers