ArticleMovement disorders clinical practice
Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India.
Article in Movement disorders clinical practice. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Pooled it
- Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features.Neuro-degenerative diseases · 2026Review
- Characterizing cranial tremors in a case of spinocerebellar ataxia type 12: a unique positional tremor.Acta neurologica Belgica · 2026Article
- Bilateral Deep Brain Stimulation of Posterior Subthalamic Area in Patient with Spinocerebellar Ataxia Type 12.Movement disorders clinical practice · 2024Article
- Dystonic Tremor as Main Clinical Manifestation of SCA21.Movement disorders clinical practice · 2024Article
- Role of Bβ1 overexpression in the pathogenesis of SCA12.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Tremor in Spinocerebellar Ataxia: A Scoping Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Non-motor symptoms in patients with Spinocerebellar ataxia type 12.Frontiers in neurology · 2024Article
- Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- The role of laboratory investigations in the classification of tremors.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.Genome research · 2023Article
- PSP-Like Phenotype in Genetically Confirmed SCA12.Movement disorders clinical practice · 2023Article
- Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.Tremor and other hyperkinetic movements (New York, N.Y.) · 2022Article
- Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12.Movement disorders clinical practice · 2021Article
- Asymmetry of Tremor in Spinocerebellar Ataxia 12- Exception or Rule?Movement disorders clinical practice · 2021Article
- A longitudinal quantitative analysis of gait in patients with SCA-12.Clinical parkinsonism & related disorders · 2021Article
- Tremor Syndromes: An Updated Review.Frontiers in neurology · 2021Review
- Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration.Cerebellum (London, England) · 2020Review
- Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36).Cerebellum (London, England) · 2020Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312551-sup-v001_1.htm.
backgroundSpinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal-dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms.
methodsTwenty-one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored.
resultsThe mean age of onset was 51 years, and most patients were descendants of a single, endogamous Indian community (Agarwal). Tremor was the most common initial presenting symptom (90%). Hand dystonia was present in 14 of 21 patients, and most patients in the cohort presented with gait disturbance. Neuropsychiatric manifestations were common coexisting features. The CAG repeat length was significantly correlated (
conclusionsTremor was the most common, nonataxic symptom at initial presentation in patients with SCA12. Proximal upper limb tremor, typically with high amplitude and low frequency, can raise a strong diagnostic suspicion. Associated hand dystonia was a common coexisting motor feature. Various nonmotor features were also observed in several cases which require therapeutic attention.
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