An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.
We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.
Higgins
J J
JJ
Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Morton
D H
DH
Patronas
N
N
Nee
L E
LE
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009333:Neck; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D013116:Spinal Cord / Q000473:pathology; D013118:Spinal Cord Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology