MovDisordV3, Main, Exploration, bibRecord, 002404

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

Identifieur interne : 002404 ( Main/Exploration ); précédent : 002403; suivant : 002405

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

Auteurs : Mark Wardle [Royaume-Uni] ; Huw R. Morris [Royaume-Uni] ; Neil P. Robertson [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-08-15.

RBID : ISTEX:D6C62FBBADFF1C38F67554218548081469B9A99C

Descripteurs français

Pascal (Inist)
- Ataxie cérébelleuse, Atrophie, Epilepsie, Pathologie du système nerveux.

English descriptors

KwdEn :
- Adolescent, Adult, African Americans (genetics), Age of Onset, Aged, Anticipation, Genetic, Atrophy, CAG repeat, Cerebellar ataxia, Child, Child, Preschool, Diagnosis, Differential, Epilepsy, European Continental Ancestry Group (genetics), Female, Humans, Infant, Male, Middle Aged, Myoclonic Epilepsies, Progressive (ethnology), Myoclonic Epilepsies, Progressive (genetics), Nerve Tissue Proteins (genetics), Nervous system diseases, Phenotype, Trinucleotide Repeats, Young Adult, dentatorubral‐pallidoluysian atrophy, myoclonic epilepsy, spinocerebellar ataxia.
MESH :
- chemical , genetics : Nerve Tissue Proteins.
- ethnology : Myoclonic Epilepsies, Progressive.
- genetics : African Americans, European Continental Ancestry Group, Myoclonic Epilepsies, Progressive.
- Adolescent, Adult, Age of Onset, Aged, Anticipation, Genetic, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Infant, Male, Middle Aged, Phenotype, Trinucleotide Repeats, Young Adult.

Abstract

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. © 2009 Movement Disorder Society

Url:

https://api.istex.fr/document/D6C62FBBADFF1C38F67554218548081469B9A99C/fulltext/pdf

DOI: 10.1002/mds.22642

Affiliations:

Royaume-Uni

Le document en format XML

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<front><div type="abstract" xml:lang="en">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. © 2009 Movement Disorder Society</div>
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Movement Disorders (revue)

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

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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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