BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder mainly diagnosed in Japan. Its prevalence is low in other countries. Three phenotypes are described: choreoathetoid movements, cerebellar ataxia, and progressive myoclonic epilepsy. OBJECTIVE: To evaluate the frequency of DRPLA in European patients with sporadic or autosomal dominant cerebellar ataxia. METHODS: We analyzed a series of 809 index patients with either autosomal dominant cerebellar ataxia (416 families) or progressive cerebellar ataxia without a family history of the disease (393 cases) for the DRPLA mutation. RESULTS: We identified a CAG repeat expansion in the DRPLA gene in one family and in one patient without a family history. The familial case illustrates the phenomenon of anticipation and the previously established correlation between the phenotype and size of the expansion. A censored-history family or expansion of large normal CAG repeats during paternal transmission could be implicated in the patient without a family history. CONCLUSIONS: This study enables us to estimate the frequency of the disease as 0.25% in both families with autosomal dominant cerebellar ataxia and sporadic cases of ataxia in our series, confirming the very low frequency of DRPLA in Europe. In both familial and sporadic cases, molecular testing for DRPLA could be restricted to patients with ataxia with one of the following features: chorea, dementia, or myoclonic epilepsy.
BACKGROUND:Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder mainly diagnosed in Japan. Its prevalence is low in other countries. Three phenotypes are described: choreoathetoid movements, cerebellar ataxia, and progressive myoclonic epilepsy. OBJECTIVE: To evaluate the frequency of DRPLA in European patients with sporadic or autosomal dominant cerebellar ataxia. METHODS: We analyzed a series of 809 index patients with either autosomal dominant cerebellar ataxia (416 families) or progressive cerebellar ataxia without a family history of the disease (393 cases) for the DRPLA mutation. RESULTS: We identified a CAG repeat expansion in the DRPLA gene in one family and in one patient without a family history. The familial case illustrates the phenomenon of anticipation and the previously established correlation between the phenotype and size of the expansion. A censored-history family or expansion of large normal CAG repeats during paternal transmission could be implicated in the patient without a family history. CONCLUSIONS: This study enables us to estimate the frequency of the disease as 0.25% in both families with autosomal dominant cerebellar ataxia and sporadic cases of ataxia in our series, confirming the very low frequency of DRPLA in Europe. In both familial and sporadic cases, molecular testing for DRPLA could be restricted to patients with ataxia with one of the following features: chorea, dementia, or myoclonic epilepsy.
Authors: O Gebus; S Montaut; B Monga; T Wirth; C Cheraud; C Alves Do Rego; I Zinchenko; G Carré; M Hamdaoui; G Hautecloque; L Nguyen-Them; B Lannes; J B Chanson; O Lagha-Boukbiza; M C Fleury; D Devys; G Nicolas; G Rudolf; M Bereau; M Mallaret; M Renaud; C Acquaviva; M Koenig; M Koob; S Kremer; I J Namer; C Cazeneuve; A Echaniz-Laguna; C Tranchant; Mathieu Anheim Journal: J Neurol Date: 2017-05-06 Impact factor: 4.849
Authors: Wai Yan Yau; Emer O'Connor; Zhongbo Chen; Jana Vandrovcova; Nicholas W Wood; Henry Houlden Journal: Brain Date: 2020-07-01 Impact factor: 13.501
Authors: Pedro Braga-Neto; José Luiz Pedroso; Gabriel Vasata Furtado; Tailise Conte Gheno; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Orlando G P Barsottini Journal: Cerebellum Date: 2017-08 Impact factor: 3.847