Autosomal Recessive Spastic Ataxia 4
What's New
Last Posted: Mar 15, 2023
- Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.
Zaman Qaiser, et al. Genes 2023 0 (2) - Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan Min-Yu, et al. Frontiers in neurology 2022 0 1005670 - Progressive myoclonus epilepsy associated with SACS gene mutations.
Nascimento Fábio A, et al. Neurology. Genetics 2016 8 (4) e83 - New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod Julie, et al. Annals of neurology 2015 8 - Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Hamza Wahiba, et al. BMC medical genetics 2015 0 36 - Copy number variation in pediatric multiple sclerosis.
McElroy J, et al. Multiple sclerosis (Houndmills, Basingstoke, England) 2012 12 - Autosomal recessive spastic ataxia 4
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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