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Two hundred and forty-eight patients from 116 Italian families with dominant ataxia were studied for CAG expansion within SCA1, 2, 3, 6, 7 (spinocerebellar ataxia) and DRPLA (dentatorubropallidoluysian atrophy) genes. Fifty-six percent of the families originated from Southern, 19% from Central and 25% from Northern Italy. SCA2 was the commonest mutation, accounting for 47% of the families, followed by SCA1 (24%), SCA6 (2%), SCA7 (2%) and DRPLA (1%). No SCA3 family was found. Twenty-four percent of the families carried a still unidentified mutation. When occurrence of mutations was evaluated according to the geographic origin, SCA1 was the commonest in Northern (72%), whereas SCA2 was prevalent (63%) in Southern Italy. The number of CAG repeats in SCA1 normal alleles was higher in Northern than in Central-Southern Italy.Copyright © 2000 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which describes the differential clinical features in a pair of monozygotic twins with dentatorubropallidoluysian atrophy.

We describe a Japanese family with molecularly confirmed DRPLA associated with chronic renal failure of unclear etiology on hemodialysis. The clinical symptoms and laboratory data show that the renal failure in our DRPLA patients is not associated with known familial renal diseases. Thus, we suggest a possible unifying hypothesis that the coexistence of DRPLA and chronic renal failure may be caused by the same etiology.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]