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About SCA-12
Spinocerebellar Ataxia Type 12 (SCA-12) is a rare, inherited neurological disorder that primarily affects coordination, balance, and motor functions due to progressive degeneration of the cerebellum and related regions of the brain. It is caused by mutations in the PPP2R2B gene, which leads to neurodegeneration and associated symptoms. Advancements in genetic research aim to improve early diagnosis, symptom management, and potential therapies to enhance the quality of life for individuals with SCA-12.
Spinocerebellar Ataxia Type 12 (SCA-12) is a rare, progressive neurological disorder caused by genetic mutations. It affects coordination, balance, and motor skills.
SCA-12 is caused by a mutation in the PPP2R2B gene. This mutation leads to neurodegeneration in the cerebellum, which controls movement and balance.
Knowledge and progress
Explore the latest research papers and publications shedding light on SCA-12 advancements.
A detailed overview of SCA12, a rare neurodegenerative disorder characterized by cerebellar ataxia and tremor. It discusses the clinical features, genetic basis involving CAG repeat expansions in the PPP2R2B gene, diagnostic approaches, and potential therapeutic strategies for managing the disease.
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The article analyzes 49 SCA12 patients, mostly from the Indian Agarwal community, highlighting tremor as the most common symptom (73.5%) with an average onset age of 46. No significant link was found between CAG repeat size and symptom onset age.
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A comprehensive overview of SCA12, a rare neurodegenerative disorder characterized by progressive cerebellar ataxia, tremor, and other neurological symptoms. It discusses the genetic basis of the disease, particularly the CAG repeat expansion in the PPP2R2B gene, and highlights recent advancements in understanding its clinical presentation, diagnostic approaches, and potential therapeutic strategies. .
Read MoreWe are curating additional SCA-12 research and community resources.
Check back for newly published studies and helpful updates.
Connect with the community
Join us at our upcoming events to support and engage with the SCA-12 community.
February 2, 2025 - 5:00 PM
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Join us for our community call where we talk about the progress made in SCA-12 research.
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February 2, 2025 - 5:00 PM
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Join us for our community call where we talk about the progress made in SCA-12 research.
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