Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.
The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.
Leuzzi
V
V
Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva, Università "la Sapienza," Rome, Italy.
Rinna
A
A
Gallucci
M
M
Di Capua
M
M
Dionisi-Vici
C
C
Longo
D
D
Bertini
E
E
D000293:Adolescent; D000328:Adult; D001259:Ataxia; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D003241:Consanguinity; D018450:Disease Progression; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D014463:Ultrasonography