Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.

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Dentatorubral-pallidoluysian atrophy (DRPLA ) is an inherited neurodegenerative disorder regarded as found almost exclusively among the Japanese . We have performed as systematic review of published literature to investigate the clinical and genetic characteristics of non-Asian DRPLA . We identified 183 non-Asian patients in 27 families reported with DRPLA with a variable level of clinical information . Mean age at onset was 31 (range 1 -67 ) with epilepsy , ataxia , and chorea common presenting features . A highly significant relationship was identified between repeat length and age at onset with repeat length accounting for 62 % of the observed variation in age at onset (P < 0 .0001 ). In addition , a highly significant relationship between repeat length and main presenting complaint was identified (P < 0 .001 ). There was evidence of marked anticipation with a median intergenerational reduction in age at onset of 19 years with a corresponding increase of five repeats per generation . DRPLA is not exclusively found among the Japanese but has been reported worldwide . As such , DRPLA should be considered in the differential diagnosis of a wide spectrum of neurological disease , particularly if there is a dominant family history . Non-Asian DRPLA clinico-genetic phenomenology are similar to Asian series and our study confirms marked genetic anticipation together with a clear association between repeat length and clinical phenotype and disease severity .