HomeGeneticsConditionAutosomal recessive cerebellar ataxia type 1
Back to Condition
Autosomal recessive cerebellar ataxia type 1
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a neurological condition characterized by progressive movement problems due to the loss of brain cells in the cerebellum, with symptoms typically appearing in early to mid-adulthood.

Overview

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of brain cells in the part of the brain that coordinates movement (cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.

More than 100 people have been diagnosed with ARCA1. This condition was first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada, but it has since been found in populations worldwide.

Causes

Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells.

SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.

Associated Gene

  • SYNE1

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • ARCA1
  • Autosomal recessive spinocerebellar ataxia 8
  • Recessive ataxia of Beauce

Frequently Asked Questions

Look for a combination of progressive gait instability, limb dysmetria (overshooting or undershooting targets), dysarthria (slurred speech), and nystagmus that begin in early‑ to mid‑adulthood without a clear external cause (e.g., stroke, alcohol). The presence of both cerebellar signs and eye‑movement abnormalities together is a red flag for a hereditary cerebellar ataxia like ARCA1.;How is ARCA1 definitively diagnosed—what tests differentiate it from other hereditary ataxias?::Diagnosis relies on a detailed neurological exam, brain MRI showing cerebellar atrophy, and genetic testing. Targeted or whole‑exome sequencing that identifies biallelic pathogenic variants in the SYNE1 gene confirms ARCA1. Testing for other ataxia genes (e.g., SCA1‑3, FRDA) helps exclude alternative diagnoses.;Are there any treatments, medications, or lifestyle changes that can slow the progression of ARCA1?::No disease‑modifying therapy is approved yet. Management focuses on symptomatic care: regular physiotherapy to maintain balance, occupational therapy for fine‑motor tasks, speech therapy for dysarthria, and assistive devices (cane, walker) as needed. Some clinicians trial vitamin E or coenzyme Q10, but evidence is limited. Avoiding neurotoxic substances (excess alcohol, certain medications) and maintaining cardiovascular fitness may help preserve overall function.;What resources are available for patients who need help with mobility, speech, or emotional support as the disease advances?::National ataxia foundations (e.g., Ataxia Foundation, Friedreich’s Ataxia Research Alliance) provide patient registries, support groups, and counseling referrals. Local disability services can arrange home modifications and equipment loans. Speech‑language pathologists and certified neuro‑rehabilitation therapists can offer targeted therapy. Psychological support, either through a therapist familiar with chronic neurodegenerative disease or peer‑support groups, is also recommended.;
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss