Abstract
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 9q13). The research was negative for all mutations. Our findings confirm that AHCR is a distinct disease within the inherited cerebellar ataxias.
Sommario
La sindromc di atassia cerebellare, ipogonadismo e corioretinopatia (AHCR) è itna varierà rara di atassia cerebellare, i cui rapporti nosografici con le altre atassie cerebellari ereditarie (SCA1, SCA2, SCA3, atassia di Friedreich (FA), etc.) sono sconosciuti. In due fratelli affetti da AHCR e nei low genitori abbiamo effettuato un’analisi molecolare per mutazioni SCA1, SCA2, SCA3 e FA, e per mutazioni del DNA mitocondriale (NARP e delezioni-duplicazioni), L’assenza delle mutazioni indagate dimostra che la sindrome AHCR è nosograficamente distinta dalle atassie cerebellari ereditarie, già definite da un punto di vista molecolare.
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Rizzi, R., Carelli, V., Monari, L. et al. Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family. Ital J Neuro Sci 19, 41–44 (1998). https://doi.org/10.1007/BF03028811
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DOI: https://doi.org/10.1007/BF03028811