Digestive system

Establishing the Diagnosis

The diagnosis of SCA14 is established in a proband with a pathogenic variant in PRKCG identified by molecular genetic testing . Because the phenotype of SCA14 is indistinguishable from many other inherit...

Source: GeneReviews — "Spinocerebellar Ataxia Type 14"

Genetic testing for PRKCG is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia type 14 has been reported in the published literature.

System/Concern | Evaluation | Comment

Neurologic

| Neurology referral to assess for cerebellar motor dysfunction (gait ataxia, dysarthria, tremor, dystonia, nystagmus) | Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS).

Speech

| For those w/dysarthria: speech/language eval | If dysarthria is atypical or severe enough to cause communication problems

Cognition

| Neuropsychiatric eval for those w/problems in learning /or attention | For example: MMSE, MoCA, WISC WAIS

Miscellaneous/

Other

| Consultation w/clinical geneticist /or genetic counselor |

BARS = Brief Ataxia Rating Scale; ICARS = International Co-operative Ataxia Rating Scale; MMSE= Mini-Mental State Exam; MoCA= Montreal Cognitive Assessment; SARA= Scale for the Assessment and Rating of Ataxia; WAIS = The Wechsler Adult Intelligence Scale; WISC= Wechsler Intelligence Scales for Children

Treatment of Manifestations

Table 4.

Treatment of Manifestations in Individuals with Spinocerebellar Ataxia Type 14

Manifestation/Concern | Treatment | Considerations/Other

Ataxia

| Assessment care by physical medicine, OT/PT | • PT (balance exercise...

Source: GeneReviews — "Spinocerebellar Ataxia Type 14"

| Annually or more often for an acute exacerbation

Dysarthria

| • Speech language development

• Need for alternative communication method

| Annually

Dysphagia

| Assess aspiration risk. | As neurologic function improves, consider advancing food consistency diet.

Intellectual

disability | Assess cognitive abilities based on improving neurologic function/cognition, | W/age, reassess changing needs for social educational services.

OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "Spinocerebellar Ataxia Type 14"

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Recent Publications

• Wolfe SA (2026). [PMID: 41926327](https://pubmed.ncbi.nlm.nih.gov/41926327/). *JCI Insight*. [Basic Science / Preclinical]

• Huang HK (2026). [PMID: 41822190](https://pubmed.ncbi.nlm.nih.gov/41822190/). *Experimental and therapeutic medicine*. [Case Report / Case Series]

• Sziber Z (2025). [PMID: 40675361](https://pubmed.ncbi.nlm.nih.gov/40675361/). *Experimental neurology*. [Basic Science / Preclinical]

• Torrents-Solé P (2025). [PMID: 41288860](https://pubmed.ncbi.nlm.nih.gov/41288860/). *Molecular neurobiology*. [Basic Science / Preclinical]

• Adachi N (2025). [PMID: 41287930](https://pubmed.ncbi.nlm.nih.gov/41287930/). *Journal of neurochemistry*. [Gene Therapy / Novel Therapeutics]

• Wu QW (2025). [PMID: 40332155](https://pubmed.ncbi.nlm.nih.gov/40332155/). *International journal of molecular sciences*. [Basic Science / Preclinical]

• Raj Ghosh G (2025). [PMID: 40100287](https://pubmed.ncbi.nlm.nih.gov/40100287/). *Cerebellum (London, England)*. [Case Report / Case Series]

• Wolfe SA (2025). [PMID: 39990445](https://pubmed.ncbi.nlm.nih.gov/39990445/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

• Wu QW (2025). [PMID: 41074411](https://pubmed.ncbi.nlm.nih.gov/41074411/). *Journal of integrative neuroscience*. [Basic Science / Preclinical]

• Yuan H (2025). [PMID: 40221062](https://pubmed.ncbi.nlm.nih.gov/40221062/). *Gene*. [Basic Science / Preclinical]