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PubMed2001

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

Congenital ataxias are a heterogeneous group of predominantly nonprogressive disorders characterized by hypotonia, developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We performed a genome-wide screen on a large inbred Lebanese family presenting a nonprogressive autosomal recessive congenital cerebellar ataxia associated with short stature (MIM 213200), already described by Mégarbané and colleagues. The disease locus was assigned to a 12.1 cM interval on chromosome 9q34-9qter between D9S67 and D9S312. Differential diagnosis with other hereditary ataxias linked to the same region is discussed.

Ataxia↗
PubMedDate not supplied

Use of isonymous marriages in the study of consanguinity.

"In a previous investigation the distribution of isonymous marriages was traced for the last 160 years in Civitella del Tronto [Italy]. In this report the authors test the reliability of the method, by verifying if isonymous mates actually descend from a common ancestor. The family menages of the three families with the highest rate of isonymous marriages [during the period 1810-1969] were reconstructed over 10-11 generations." (SUMMARY IN FRE AND ITA)

Biology↗