TY - JOUR
T1 - Cerebellar ataxia, hypogonadism and chorioretinopathy
T2 - Molecular analysis of an Italian family
AU - Rizzi, R.
AU - Carelli, V.
AU - Monari, L.
AU - Mochi, M.
AU - Liguori, R.
AU - Sensi, M.
AU - Cocozza, S.
AU - Filla, A.
AU - Montagna, P.
PY - 1998
Y1 - 1998
N2 - This study aimed to determine if cerebellar ataxia, hypogonadism and chorioretinopathy (AHCR) is associated with mutations in mitochondrial DNA or in genes responsible for spinocerebellar ataxias (SCA1, SCA2, SCA3 and Friedreich's ataxia). Two brothers with cerebellar ataxia, hypogonadism and chorioretinopathy and their unaffected parents underwent molecular analysis for duplications and deletions in mitochondrial DNA (mtDNA), point mutations in the ATP ase 6 gene, and expansions of CAG repeats (at 6p22-p23, 12q24.1, 14q32.1) and of GAA repeats (at gene X25 on chromosome 9ql3). The research was negative for all mutations. Our findings confirm that AHCR is a distinct disease within the inherited cerebellar ataxias.
AB - This study aimed to determine if cerebellar ataxia, hypogonadism and chorioretinopathy (AHCR) is associated with mutations in mitochondrial DNA or in genes responsible for spinocerebellar ataxias (SCA1, SCA2, SCA3 and Friedreich's ataxia). Two brothers with cerebellar ataxia, hypogonadism and chorioretinopathy and their unaffected parents underwent molecular analysis for duplications and deletions in mitochondrial DNA (mtDNA), point mutations in the ATP ase 6 gene, and expansions of CAG repeats (at 6p22-p23, 12q24.1, 14q32.1) and of GAA repeats (at gene X25 on chromosome 9ql3). The research was negative for all mutations. Our findings confirm that AHCR is a distinct disease within the inherited cerebellar ataxias.
KW - Cerebellar ataxia
KW - Chorioretinopathy hypogonadism
KW - Genetics
UR - http://www.scopus.com/inward/record.url?scp=0031987570&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031987570&partnerID=8YFLogxK
M3 - Article
C2 - 10935859
AN - SCOPUS:0031987570
VL - 19
SP - 41
EP - 44
JO - Italian Journal of Neurological Sciences
JF - Italian Journal of Neurological Sciences
SN - 0392-0461
IS - 1
ER -