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

Rare Disease

autosomal recessive syndromic cerebellar ataxia

MONDO:0020047

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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 phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansions ranges from typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), to cerebellar, sensory and vestibular impairment, to more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control. Before its molecular basis was known, CANVAS was characterized as cerebellar dysfunction with predominant vermian atrophy, spinal and cranial sensory neuronopathy, and bilateral vestibular areflexia [, , , , , , , , , ].

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

Formal diagnostic criteria for RFC1 CANVAS / spectrum disorder have not been established.

Suggestive Findings

RFC1 CANVAS / spectrum disorder should be suspected in individuals with onset after age 35 years of one or more the following findings (with electrodiagnostic, vestibular, and imaging findings and family history).

Clinical Findings

Complex impairment of balance and coordination of peripheral, vestibular, and cerebellar origin

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 syndromic cerebellar ataxia. The disease remains an area of unmet medical need.

Gene therapy approaches for autosomal recessive syndromic cerebellar ataxia have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with RFC1 CANVAS / spectrum disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with RFC1 CANVAS / Spectrum Disorder

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with RFC1 CANVAS / Spectrum Disorder

System/Concern | Evaluation | Frequency

Neurologic

| • Neurologic assessment for progression of ataxia; sensory impairment; vestibular dysfunction; dysautonomia

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.

69 publications have been identified in PubMed for autosomal recessive syndromic cerebellar ataxia. Research spans Case Report / Case Series (55%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	38	55%

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 2:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98099

GARD

Genetic and Rare Diseases Info Center

GARD:19416

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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GeneReviews

Differential Diagnosis

AAGGG expansions in RFC1 were identified in 82%-97% of individuals with clinical features consistent with the full CANVAS phenotype , suggesting that locus heterogeneity for the full CANVAS phenotype (albeit limited) is possible. AAGGG expansions in RFC1 represent one of the more common causes of hereditary adult-onset ataxia (see Hereditary Ataxia Overview). In individuals with adult-onset ataxia, RFC1 AAGGG expansions were identified in 14%-22% of individuals . Given the multisystem involvement of RFC1 CANVAS / spectrum disorder and the possible asynchronous involvement of different systems during disease progression, the differential diagnosis is broad and includes: • Genetic causes of inherited ataxia (see Hereditary Ataxia Overview); • Genetic causes of inherited neuropathy (see Charcot-Marie-Tooth Hereditary Neuropathy Overview); • Mitochondrial disorders that can manifest with ataxia, neuropathy and (more occasionally) bilateral vestibular areflexia (see Mitochondrial Disorders Overview). Selected genes and disorders of interest are summarized in [, , , , , , , , ]. Table 3. Genes of Interest in the Differential Diagnosis of RFC1 CANVAS / Spectrum Disorder

Gene	DiffDx Disorder	MOI	Clinical Features of DiffDx Disorder
ATXN3	SCA3 (MJD)	AD	Progressive cerebellar ataxia; Sensory loss; Because MJD is a late-onset disorder (5th-7th decade) pyramidal/ extrapyramidal signs may be absent, MJD may mimic RFC1-CANVAS.
FXN	Friedreich ataxia (FRDA)	AR	Sensory neuronopathy; Cerebellar dysfunction; Bilateral vestibular areflexia is possible.; Late-onset FRDA can be clinically indistinguishable from RFC1-CANVAS.
Vision hearing loss MT-ATP6MT-TL11mtDNA deletion	NARP; MIDD/MELAS; Kearns-Sayre syndrome (See mtDNA Deletion Syndromes.)	Mat	Ataxia; Neuropathy; Bilateral vestibular areflexia (reported in assoc w/m.3243AG)
POLG	SANDO (See POLG Disorders, Ataxia Neuropathy Spectrum.)	AR	Sensory neuronopathy; Cerebellar dysfunction
PRNP	Gerstmann-Strussler-Scheinker disease (diarrhea autonomic neuropathy)2(See Genetic Prion Disease.)	AD	Neuropathy; Ataxia; Autonomic failure

Source: GeneReviews — "RFC1 CANVAS / Spectrum Disorder"

System/Concern	Evaluation	Comment
Neurologic	Assessment by neurologist for gait postural ataxia	No validated clinical scale for RFC1 CANVAS / spectrum disorder exists; consider use of validated scales for eval of cerebellar disorder (e.g., SARA) neuropathy (e.g., CMTNS).1 Assess sensory neuropathy (sensory impairment, / reflexes, dysmetria) to evaluate for pain.
Rehabilitation	Assess gross motor fine motor skills ambulation.	Prevention of falls; Adaptive devices (cane, walker, wheelchair); PT
Speech	For those w/dysarthria: speech/language eval	Feeding
Respiratory	For those w/disabling cough or respiratory symptoms: consider referring to pulmonary specialist.	Consider:; Respiratory function testing, esp in non-ambulant individuals;; A sleep study if sleep apnea is suspected. Genetic
counseling	By genetics professionals2	To inform patients their families re nature, MOI, implications of RFC1 CANVAS / spectrum disorder in order to facilitate medical personal decision making Family support/ resources
Treatment of Manifestations in Individuals with RFC1 CANVAS / Spectrum Disorder Manifestation/Concern	Treatment	Considerations/Other Ataxia
(multifactorial)	Care by neurorehabilitation specialist, physiatrist, OT/PT	Consider adaptive devices to maintain/improve mobility (e.g., canes, walkers, ramps to accommodate motorized chairs), feeding (e.g., weighted eating utensils), dressing (e.g., dressing hooks).
neuropathy	Neurologist, physiatrist	Advice on injury avoidance; Consider pain treatment (rarely required). Vestibular
dysfunction	Neurorehabilitation specialist, ENT specialist	Consider vestibular rehab.4 Autonomic
dysfunction	Care by neurologist, neurorehabilitation specialist, physiatrist	Consider treatment for erectile dysfunction, urinary incontinence/retention, constipation/diarrhea, dry eyes/mouth.
Dysarthria	Speech language therapy	Consider alternative communication methods as needed (e.g., writing pads digital devices; rarely required). Dysphagia

autosomal recessive syndromic cerebellar ataxia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Clinical Trials

Dysarthria

Dysphagia

Recent Publications