Autosomal Recessive Cerebellar Ataxia

Autosomal recessive cerebellar ataxia () describes a heterogeneous group of rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorde ...

s with an

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

inheritance pattern and a clinical phenotype involving

cerebellar ataxia Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms ...

. It may refer to: * Autosomal recessive cerebellar ataxia type 1, autosomal recessive ataxia, Beauce type * Autosomal recessive cerebelloparenchymal disorder type 3 * Dysequilibrium syndrome * CAMOS syndrome * Cerebellar ataxia, Cayman type * Joubert syndrome with oculorenal defect * Joubert syndrome * Joubert syndrome with hepatic defect * Orofaciodigital syndrome type 6 * Joubert syndrome with ocular defect * Joubert syndrome with renal defect * Joubert syndrome with Jeune asphyxiating thoracic dystrophy * Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency * Congenital cerebellar ataxia due to RNU12 mutation * Ataxia with vitamin E deficiency * Abetalipoproteinemia * Refsum disease * Cerebrotendinous xanthomatosis *

Infantile Refsum disease Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with m ...

* Recessive mitochondrial ataxia syndrome * Autosomal recessive ataxia due to PEX10 deficiency * Autosomal recessive cerebellar ataxia with late-onset spasticity * Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency * Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency * Ataxia-telangiectasia * Ataxia-oculomotor apraxia type 1 * Spinocerebellar ataxia with axonal neuropathy type 2 * Spinocerebellar ataxia with axonal neuropathy type 1 * Xeroderma pigmentosum-Cockayne syndrome complex * Ataxia-telangiectasia-like disorder *

Xeroderma pigmentosum Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in s ...