Youngest presenting patient with dystonia 24 and review of the literature

Nelin, Sarah; R, Hussey; Faux, Brian M.; Rohena, Luis

doi:10.1002/ccr3.1671

Cited by 15 publications

(16 citation statements)

References 15 publications

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“…DYT‐ ANO3 follows an autosomal‐dominant mode of inheritance, and only heterozygous mutations have been reported to date. The description of multiplex families with ANO3 mutations is rare, and 5 different de novo mutations in 6 patients have been reported 7,8,41‐44 …”

Section: Resultsmentioning

confidence: 99%

“…Nonmotor signs and symptoms were rarely reported (≥79.6% missing). There were 2 patients with cognitive impairment, one of them in the context of a (neuro)developmental disorder 41 …”

Section: Resultsmentioning

confidence: 99%

“…There were 2 patients with cognitive impairment, one of them in the context of a (neuro)developmental disorder. 41 DYT-ANO3 follows an autosomal-dominant mode of inheritance, and only heterozygous mutations have been reported to date. The description of multiplex families with ANO3 mutations is rare, and 5 different de novo mutations in 6 patients have been reported.…”

Section: Ano3mentioning

confidence: 99%

“…The description of multiplex families with ANO3 mutations is rare, and 5 different de novo mutations in 6 patients have been reported. 7,8,[41][42][43][44] A total of 31 variants have been described. Because of the rarity of truncating or recurrent mutations and functional studies, none of the variants has yet been scored as definitely pathogenic based on MDSGene criteria.…”

Section: Ano3mentioning

confidence: 99%

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Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

et al. 2021

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A BS TRACT: This comprehensive MDSGene review is devoted to 7 genes -TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCAmutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of~1200 citations. Phenotypic and genotypic data on~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of symptoms across mutation carriers in all 7 genes. Although carriers of TOR1A, THAP1, PRKRA, KMT2B, or HPCA mutations mostly showed childhood and adolescent onset, patients with GNAL and ANO3 mutations often developed first symptoms in adulthood. GNAL and KMT2B mutation carriers frequently have 1 predominant site of onset, that is, the neck (GNAL) or the lower limbs (KMT2B), whereas site of onset in DYT-TOR1A, DYT-THAP1, DYT-ANO3, DYT-PRKRA, and DYT-HPCA was broader. However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacial/laryngeal), whereas onset in DYT-TOR1A, DYT-PRKRA and DYT-HPCA was frequently observed in an extremity, including both upper and lower ones. For ANO3, a segmental/multifocal distribution was typical, whereas TOR1A, PRKRA, KMT2B, and HPCA mutation carriers commonly developed generalized dystonia. THAP1 mutation carriers presented with focal, segmental/multifocal, or generalized dystonia in almost equal proportions. GNAL mutation carriers rarely showed generalization. This review provides a comprehensive overview of the current knowledge of hereditary isolated dystonia. The data are also available in an online database (http://www.mdsgene.org), which additionally offers descriptive summary statistics.

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Section: Resultsmentioning

confidence: 99%

“…Nonmotor signs and symptoms were rarely reported (≥79.6% missing). There were 2 patients with cognitive impairment, one of them in the context of a (neuro)developmental disorder 41 …”

Section: Resultsmentioning

confidence: 99%

Section: Ano3mentioning

confidence: 99%

Section: Ano3mentioning

confidence: 99%

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Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

et al. 2021

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“…Our case also raises the question of whether psychiatric disorders may form part of the phenotypic spectrum of ANO3 mutations. Some reports detail behavioural and/or neurodevelopmental issues, [2,7] in ANO3 mutation carriers (Table 1), and it is plausible abnormal ANO3 gene product could contribute to fronto-striato-limbic network dysfunction with resulting psychiatric and neurobehavioural manifestations. [2,3,7,8] Whether psychiatric features in other published cases of ANO3 could have been overlooked, or even whether a forme fruste of ANO3 may manifest as a purely psychiatric disorder would be interesting to examine in future studies.…”

Section: Discussionmentioning

confidence: 99%

Huntington disease-like phenotype in a patient with ANO3 mutation

Kutty

Mulroy

Magrinelli

et al. 2021

Parkinsonism & Related Disorders

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The Clinical Spectrum of ANO3—Report of a New Family and Literature Review

Percetti,

Zini,

Soliveri

et al. 2024

Movement Disord Clin Pract

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BackgroundMutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood.CasesWe extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years. She later developed a diffuse dystonic tremor and mild extrapyramidal signs (ie, rigidity and hypodiadochokinesis) in her right arm. She also suffered from psychomotor delay and learning difficulties. Repeated structural and functional neuroimaging were unremarkable. A dystonic tremor was also present in her two sisters. Her paternal aunt, father, and a third older sister presented episodic postural tremor in the arms. The father and one sister also presented learning difficulties. The heterozygous p.G6V variant in ANO3 was identified in all affected subjects.Literature reviewStratification by age at onset divided ANO3 cases into two major groups, where younger patients displayed a more severe phenotype, probably due to variants near the scrambling domain.ConclusionsWe describe the phenotype of a new ANO3 family and highlight the need for functional studies to explore the impact of ANO3 variants on its phospholipid scrambling activity.

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Youngest presenting patient with dystonia 24 and review of the literature

Cited by 15 publications

References 15 publications

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

Huntington disease-like phenotype in a patient with ANO3 mutation

The Clinical Spectrum of ANO3—Report of a New Family and Literature Review

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