The first identified French family with dentatorubral-pallidoluysian atrophy

Destée, Alain; Delalande, I; Vuillaume, Isabelle; Schraen, Susanna; Defebvre, Luc; Sablonnière, Bernard

doi:10.1002/1531-8257(200009)15:5<996::aid-mds1036>3.0.co;2-9

Cited by 14 publications

(9 citation statements)

References 13 publications

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“…A few cases were reported from European countries [119-125], North America [126] and recently from Turkey [127]. The age of disease onset ranges from 1 to 60 years (mean age is 28.8 years) [119,123].…”

Section: Dentatorubral Pallidoluysian Atrophy (Drpla)mentioning

confidence: 99%

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Whaley

Fujioka

Wszołek

2011

Orphanet J Rare Dis

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Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The global prevalence of this disease is not known. The most common type I ADCA is SCA3 followed by SCA2, SCA1, and SCA8, in descending order. Founder effects no doubt contribute to the variable prevalence between populations. Onset is usually in adulthood but cases of presentation in childhood have been reported. Clinical features vary depending on the SCA subtype but by definition include ataxia associated with other neurological manifestations. The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. Cerebellar ataxia can affect virtually any body part causing movement abnormalities. Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA). Type I ADCA can be further divided based on the proposed pathogenetic mechanism into 3 subclasses: subclass 1 includes type I ADCA caused by CAG repeat expansions such as SCA1-SCA3, SCA17, and DRPLA, subclass 2 includes trinucleotide repeat expansions that fall outside of the protein-coding regions of the disease gene including SCA8, SCA10 and SCA12. Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28. Diagnosis is based on clinical history, physical examination, genetic molecular testing, and exclusion of other diseases. Differential diagnosis is broad and includes secondary ataxias caused by drug or toxic effects, nutritional deficiencies, endocrinopathies, infections and post-infection states, structural abnormalities, paraneoplastic conditions and certain neurodegenerative disorders. Given the autosomal dominant pattern of inheritance, genetic counseling is essential and best performed in specialized genetic clinics. There are currently no known effective treatments to modify disease progression. Care is therefore supportive. Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable depending on the type of ADCA and even among kindreds.

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Section: Dentatorubral Pallidoluysian Atrophy (Drpla)mentioning

confidence: 99%

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Whaley

Fujioka

Wszołek

2011

Orphanet J Rare Dis

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“…DRPLA is considered a very rare pathology in non‐Asian populations, reported in single cases or small families (Supplementary Table 3). The Italian pedigree described here counts the highest number of Caucasians subjects with DRPLA reported to date.…”

Section: Discussionmentioning

confidence: 99%

“…DRPLA is rare, and its worldwide prevalence is strongly related to ethnic background. The prevalence is greater in Japan (0.48:100,000 subjects), and only 25 DRPLA families have been reported in the Caucasians population to date …”

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confidence: 99%

The largest caucasian kindred with dentatorubral‐pallidoluysian atrophy: A founder mutation in italy

et al. 2019

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Background Dentatorubral‐pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral‐pallidoluysian atrophy familial cases describing their clinical features. Methods We investigated 6 apparently unrelated dentatorubral‐pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral‐pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were analyzed. Results All 6 families were unified in a large pedigree deriving from a founder couple originating from Monte San Giuliano (Italy) in the late 1500s, with 51 affected subjects over the last 4 generations. Wide phenotypical variability in age at onset and clinical features was confirmed. Epilepsy was more frequent in juvenile cases than in late adults, with cognitive/psychiatric and motor disorders observed regardless of age at onset. Conclusions We have described the largest Caucasian dentatorubral‐pallidoluysian atrophy pedigree from a single founder couple. The introduction of the dentatorubral‐pallidoluysian atrophy gene in Italy could have arisen as a result of trade relationships between the Spanish or Portuguese and the Japanese in the 1500s. © 2019 International Parkinson and Movement Disorder Society

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“…In patients with late-onset DRPLA, dementia or choreiform movements generally develop within 4-5 years after the disease presents with cerebellar ataxia [23]. These phenotype variation and mode of clinical evolution originally described in Japanese patients are also described in the recent reports from North America and Europe [1,3,11,14,22]. Haw River syndrome, an allelic disorder of DRPLA, also manifests choreiform involuntary movements, seizure, and dementia, in addition to cerebellar ataxia [2,4].…”

Section: Discussionmentioning

confidence: 99%

Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA)

Yabe

Sasaki

Kikuchi

et al. 2002

Journal of Neurology

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We clinically and genetically studied three patients in a family with dentatorubro-pallidoluysian atrophy (DRPLA). The proband patient had 58/24 CAG repeat alleles of the DRPLA gene (normal < or = 34 repeats). Cerebellar ataxia first developed in the 6-7th decades and was the predominant feature for more than 10 years in all three, after which two of them manifested dementia and choreiform movements in the advanced stage. Atrophy of the cerebellum and brain stem an CT or MRI had suggested dominant spinocerebellar ataxia as a diagnosis in their ataxia-predominant stage, with a diagnosis of DRPLA being impossible based on the clinical findings alone. Our experience implies that DRPLA must be taken into account in the differential diagnosis of late onset ataxic disorders, since it can easily be overlooked.

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The first identified French family with dentatorubral-pallidoluysian atrophy

Cited by 14 publications

References 13 publications

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

The largest caucasian kindred with dentatorubral‐pallidoluysian atrophy: A founder mutation in italy

Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA)

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