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autosomal recessive metabolic cerebellar ataxia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive metabolic cerebellar ataxia

MONDO:0020044

Find Clinical TrialsTrials

Overview

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The phenotype and disease severity of untreated ataxia with vitamin E deficiency (AVED) vary widely. Although age of onset and disease course tend to be more uniform within a given family, clinical findings and disease severity can vary among sibs . Untreated AVED generally manifests in late childhood or the early teenage years, between ages five and 15 years; however, the range may be from age two to 37 years as reported in a series of 132 North African individuals . When vitamin E treatment is initiated in presymptomatic individuals (e.g., younger sibs of an index case), manifestations of AVED do not develop (see Management, ).

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for ataxia with vitamin E deficiency (AVED) have been published.

Suggestive Findings

AVED should be suspected a proband with the following clinical and laboratory findings and family history.

Clinical features

Onset between ages five and 15 years

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal recessive metabolic cerebellar ataxia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for ataxia with vitamin E deficiency (AVED) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with a hereditary ataxia, the evaluations summarized in Hereditary Ataxia Overview, Table 6, are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Targeted Therapy

For those on vitamin E therapy, the plasma vitamin E concentration should be measured at regular intervals (e.g., every 6 months), especially in children. Ideally the plasma vitamin E concentration should be maintained in the high-normal range. Some protocols call for measuring the total radical-trapping antioxidant parameter of plasma (TRAP). Although -tocopherol only contributes 5%-10% to TRAP, this parameter appears to be the best surrogate marker for clinical improvement . Discontinuation of vitamin E supplementation, even temporarily, leads to a drop in plasma vitamin E concentration within two to three days and to a prolonged drop in TRAP, even after reinitiating vitamin E supplementation .

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.

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

48 publications have been identified in PubMed for autosomal recessive metabolic cerebellar ataxia. Research spans Basic Science / Preclinical (48%), Case Report / Case Series (25%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Laboratory research	23	48%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98096

GARD

Genetic and Rare Diseases Info Center

GARD:19413

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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Kisho

autosomal recessive metabolic cerebellar ataxia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Targeted Therapy

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Symptomatic Individuals

Recent Publications

autosomal recessive metabolic cerebellar ataxia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Targeted Therapy

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Symptomatic Individuals

Recent Publications