[Hereditary spastic paraplegia with coordination disorders and sensorineural deafness].
The authors summarize the results of a follow-up study (clinico-electrophysiological) of the S. family living in the Namangan region of the Uzbek SSR. The familial anamnesis data provide evidence in favour of a probable autosomal recessive type of inheritance. A combination of the disease signs has been defined: spasticity, deafness, ataxia and speech disorders. To specify the problem of the given syndrome nosology, further studies into gene mapping are required.
Badalian
L O
LO
Iadgarov
I S
IS
Temin
P A
PA
Arkhipov
B A
BA
Bulaeva
N V
NV
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
Semeĭnaia spasticheskaia paraplegiia s koordinatornymi narusheniiami i neĭrosensornoĭ glukhotoĭ.