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spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (SCAN) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

MONDO:0020771

Also known as:SCAN

Overview

OnsetJUVENILE

ResearchLimited published research (1 article)

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.

Age of onset: adolescence.

GeneReviews

Clinical Guidance

Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by progressive ataxia, cerebellar atrophy, and distal sensorimotor axonal neuropathy based on findings in three persons in a consanguineous family from Saudi Arabia and four affected individuals from two apparently unrelated consanguineous families from Oman . The following description of the phenotypic features associated with this condition is based on these two reports. Cerebellar ataxia. Ataxic gait appears in the second decade of life between ages 13 and 15 years. The ataxia progresses slowly, initially manifesting as mild incoordination of the upper limbs and lower limbs and then progressing to inability to walk.

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 spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) have been published.

Suggestive Findings

SCAN1 is suspected in individuals with the following clinical findings, electrophysiologic studies, laboratory findings, brain imaging, and family history .

Clinical findings

Slowly progressive disorder beginning in late childhood to early adulthood (ages 13-27 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 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with SCAN1, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) 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

Routine follow up as determined by treating specialists is recommended to monitor the response to supportive care and to assess for changes in existing manifestations and/or emergence of new manifestations.

Source: GeneReviews — "Spinocerebellar Ataxia with Axonal Neuropathy Type 1"

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.

No clinical trials have been registered for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy.

1 publication has been identified in PubMed for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy. Research spans Epidemiology / Natural History (100%).

Recent Publications

Ahmed AN (2024). [PMID: 39415096](https://pubmed.ncbi.nlm.nih.gov/39415096/). *BMC neurology*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→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

Table 2. Genes of Interest in the Differential Diagnosis of Spinocerebellar Ataxia with Axonal Neuropathy Type 1

Gene	Disorder	MOI	Phenotype
ABHD12	Polyneuropathy, hearing loss, ataxia, RP, cataract (OMIM 612674)	AR	Pes cavus; Achilles tendon contractures; RP; ataxic /or spastic gait; progressive sensorimotor peripheral neuropathy
APTX	Ataxia w/oculomotor apraxia type 1 (AOA1) (OMIM 208920)	AR	Early-onset cerebellar ataxia; axonal neuropathy; oculomotor apraxia; chorea or dystonia; serum concentration of albumin total cholesterol. AOA1 can be distinguished from SCAN1 by presence of oculomotor apraxia (80% of persons w/AOA1), but this sign is not obvious in the early stages of disease. ATM
Ataxia-telangiectasia	AR	Telangiectasia; ataxia; cerebellar degeneration	—
COA7	Spinocerebellar ataxia w/axonal neuropathy 3 (OMIM 618387)	AR	Childhood onset; axonal motor sensory neuropathy; cerebellar ataxia cerebellum atrophy on MRI. Clinically similar to SCAN1. CYP27A1
Cerebrotendinous xanthomatosis	AR	Symmetric distal sensory loss weakness; cerebellar ataxia; upper motor signs; enlarged tendons	—
ERCC4	ERCC4-related xeroderma pigmentosum	AR	Freckle-like lesions, xerosis, poikiloderma on sun-exposed skin; ocular abnormalities; in 25% of affected persons, progressive neurologic abnormalities
ERCC6	ERCC6-related Cockayne syndrome	AR	ID; demyelinating neuropathy; retinopathy; congenital cataracts; joint contractures; prominent nasal bridge; sensorineural hearing loss; severe motor dysfunction
FXN	Friedreich ataxia (FRDA)	AR	Slowly progressive ataxia; depressed tendon reflexes; dysarthria; muscle weakness; lower-limb spasticity; optic nerve atrophy; scoliosis; bladder dysfunction; loss of position vibration senses; onset age usually 25 yrs
MRE11	Ataxia-telangiectasia-like disorder (OMIM 604391)	AR	Similar to ataxia-telangiectasia; cerebellar degeneration; normal intellect
PHYH	PHYH-related Refsum disease	AR	Childhood to adult onset; night blindness; demyelinating neuropathy; anosmia; ataxia; RP
PNKP	Ataxia w/oculomotor apraxia type 4 (OMIM 616267)	AR	Childhood onset; dystonia; ataxia; oculomotor apraxia; cognitive impairment
POLG	POLG-related ataxia neuropathy spectrum1 (See POLG-Related Disorders.)	AR	Adolescent to adult onset; sensory loss; ataxia; ophthalmoplegia SACS
ARSACS	AR	Neuropathy; ataxia; spasticity; ID; prominent myelinated nerve fibers	—
SETX	Ataxia w/oculomotor apraxia type 2 (AOA2)	AR	Early-onset cerebellar ataxia; axonal neuropathy; oculomotor apraxia; chorea or dystonia; serum alpha-fetoprotein (AFP) level
SLC52A2	SLC52A2-related riboflavin transporter deficiency	AR	Progressive bulbar palsy; childhood-onset sensorineural deafness; childhood-onset neuronopathy that is more prominent as upper...

Source: GeneReviews — "Spinocerebellar Ataxia with Axonal Neuropathy Type 1"

Kisho

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials