Ataxia-deafness-retardation syndrome in three sisters.
Three sisters aged 16, 12 and 8 years from a consanguineous family presented with a progressive spinocerebellar ataxia combined with moderate mental retardation, progressive sensorineural hearing loss and signs of both upper and lower motor neuron disease. The patients represent the only known cases of the ataxia-deafness-retardation syndrome (McKusick #20885) except for the three brothers in the original description by Berman et al (1973). In the family described here transmission of the disease appears to be linked with occurrence of red hair colour.
Koletzko
S
S
Koletzko
B
B
Lamprecht
A
A
Lenard
H G
HG
D000293:Adolescent; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005860:Germany, West; D006200:Hair Color / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D013577:Syndrome; D014421:Turkey / Q000208:ethnology