Huntington disease-like phenotype in a patient with ANO3 mutation

Kutty, Shahedah Koya; Mulroy, Eoin; Magrinelli, Francesca; Lazzaro, Giulia Di; Latorre, Anna; Bhatia, Kailash P.

doi:10.1016/j.parkreldis.2021.02.022

Cited by 6 publications

(5 citation statements)

References 13 publications

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“…Given the severe psychiatric comorbidity, the patient was not considered eligible for We believe this clinical case highlights two major points of discussion: (1) the evolution of the motor phenomenology from a chorea-dominant to a dystonia-dominant motor phenotype might reflect the natural history of this rare disease driven by changes in brain neuroplasticity occurring with aging. 3,4 (2) In line with previous reports, [5][6][7] chorea is a possible relevant phenotype of specific ANO3 variants, potentially justified by the finding that ANO3 mRNA expression is significantly higher in the putamen. 2 Therefore, we propose to consider testing for variants in the ANO3 in patients displaying early-onset choreo-dystonic syndromes dominated by chorea, even with a negative familial history.…”

supporting

confidence: 70%

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution

Romito,

Leta,

Garavaglia

et al. 2023

Movement Disorders

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supporting

confidence: 70%

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution

Romito,

Leta,

Garavaglia

et al. 2023

Movement Disorders

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“…Seven variants were classified as de novo, occurring only in younger patients 3,4,13,17,18,21,28 ( P = 0.014). The most common variants were p.A657T and p.S685G, reported in 3 and 4 unrelated families, respectively 2,8,10,12,16,24,27 . ANO3 variants were widespread along the length of the protein (Fig.…”

Section: Literature Reviewmentioning

confidence: 99%

“…The most common variants were p.A657T and p.S685G, reported in 3 and 4 unrelated families, respectively. 2,8,10,12,16,24,27 ANO3 variants were widespread along the length of the protein (Fig. S1; Table S1), showing a preference for dimerization and the transmembrane domains 4 and 5.…”

Section: Literature Reviewmentioning

confidence: 99%

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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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“…• Huntington's disease [14,95] • C9orf72 expansion mutation (frontotemporal dementia, motor neuron disease and movement disorders, probably frequent phenocopy of HD [43]) • Spinocerebellar ataxia 17 (corresponds to Huntington's-disease-like-4; HDL4 [95]) • Spinocerebellar ataxia types 3, 2, 1 and 7 [78] • Spinocerebellar ataxia type 8 [95] • Spinocerebellar ataxia type 12 (mainly India [48,95] [13,14] Other rare inherited disease entities • Huntington's disease-like 1 and 3, only described in individual families [14] • HDL1 with prion protein (PrP) gene mutations (PRNP) and rapid progression [14,95] • HDL3, a family [47] • RNF216 mutation (autosomal recessive, leukoencephalopathic lesions and possibly Serum gonadotropin ↓ [93]) • ANO3 mutations [52] • FRRS1L mutations (Saudi Arabia; also epilepsy [95]) • Primary Familial Brain Calcification (formerly "Fahr's disease", cMRI/CCT helpful (SLC20A2-,PDGFB, PDGFRB or XPR1 gene [95]) • POLG gene mutations (dystonia, myoclonus, discrete chorea [101]) • Leigh's disease [63] • SETX mutation (with motor neuron disease [94]) • Laurence-Moon-Biedl-Bardet syndrome [65] • Friedreich ataxia [41] • NBIA "neurodegeneration with brain iron accumulation" (umbrella term for e. dystrophy (PLA2G6), C19orf12, C2orf37, FA2H, ATP13A2, COASY and DCAF17 mutations-more likely no chorea)) with iron deposits in the basal ganglia as a typical MRI finding [3,14,82,95,103,113]) • Wilson's disease [14,95] • TAR DNA binding protein variation (TARDBP; with frontotemporal dementia [51]) • Lesch-Nyhan syndrome; X-linked [1,14] • Niemann-Pick type C …”

Section: Hereditary Disease Entities Presenting With Chorea or Featur...mentioning

confidence: 99%

Differential diagnosis of chorea (guidelines of the German Neurological Society)

Saft,

Burgunder,

Dose

et al. 2023

Neurol. Res. Pract.

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Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. Summary or definition of the topic The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. Recommendations Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27–35 CAG repeats) which may display expansions into the pathogenic range). Conclusions The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

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Huntington disease-like phenotype in a patient with ANO3 mutation

Cited by 6 publications

References 13 publications

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution

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

Differential diagnosis of chorea (guidelines of the German Neurological Society)

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