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autosomal recessive spinocerebellar ataxia 7 (SCAR7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spinocerebellar ataxia 7

MONDO:0012235

Also known as:SCAR7autosomal recessive spinocerebellar ataxia type 7spinocerebellar ataxia, autosomal recessive type 7

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Overview

Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.

GeneticsAutosomal recessive · TPP1 (chr 11)

Clinical Trials2 registered · 1 recruiting

Newborn Screening31 states (Short-Chain Acyl-CoA Dehydrogenase Deficiency)

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 11:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609270

Orphanet

European rare disease database

Orphanet:284324

GARD

Genetic and Rare Diseases Info Center

GARD:12232

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Features include always present findings: Scanning speech, Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), and Ataxia and others; and very common findings: Postural tremor. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Scanning speech, Gait ataxia, Ataxia
Eyes	5	Saccadic smooth pursuit interruptions, Nystagmus, Oculomotor apraxia
Muscles	1	Shrinkage of the cerebellum (cerebellar atrophy)
Digestive system	1	Difficulty swallowing (dysphagia)
Kidneys and urinary system	1	Urinary urgency
Bones and joints	1	Postural tremor
Arms and legs	1	Limb ataxia

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

86 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 7. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	30	35%
Laboratory research	18	21%
Research summaries	16	19%
Clinical study results	8	9%
Disease patterns and progression	8	9%
Testing and diagnosis research	4	5%
Other research	1	1%
New treatment approaches	1	1%

Recent Publications

Fortin J (2026). [PMID: 41669957](https://pubmed.ncbi.nlm.nih.gov/41669957/). *Mov Disord*. [Epidemiology / Natural History]
Zheng KM (2026). [PMID: 41851873](https://pubmed.ncbi.nlm.nih.gov/41851873/). *BMC Neurol*. [Basic Science / Preclinical]
Al Shamsi B (2026). [PMID: 41294032](https://pubmed.ncbi.nlm.nih.gov/41294032/). *Am J Med Genet A*. [Review / Meta-Analysis]
Martineau L (2026). [PMID: 41529449](https://pubmed.ncbi.nlm.nih.gov/41529449/). *Stem Cell Res*. [Clinical Trial Publication]
Ahmad S (2026). [PMID: 41649149](https://pubmed.ncbi.nlm.nih.gov/41649149/). *Clin Dysmorphol*. [Case Report / Case Series]
Misceo D (2026). [PMID: 42074495](https://pubmed.ncbi.nlm.nih.gov/42074495/). *Genes (Basel)*. [Case Report / Case Series]
Erdmann H (2026). [PMID: 40898875](https://pubmed.ncbi.nlm.nih.gov/40898875/). *Brain*. [Epidemiology / Natural History]
Brown BN (2026). [PMID: 42160398](https://pubmed.ncbi.nlm.nih.gov/42160398/). *PLoS Genet*. [Basic Science / Preclinical]
Yeow D (2026). [PMID: 41353788](https://pubmed.ncbi.nlm.nih.gov/41353788/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Chrysanthou A (2026). [PMID: 42129323](https://pubmed.ncbi.nlm.nih.gov/42129323/). *Sci Rep*. [Basic Science / Preclinical]

Kisho

autosomal recessive spinocerebellar ataxia 7

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

autosomal recessive spinocerebellar ataxia 7

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications