... called mutations) in the ATM gene that cause ataxia-telangiectasia. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood. People with this disorder ...

... have been found to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay, commonly called ARSACS. ARSACS is ... muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms ...

... the TTPA gene have been found to cause ataxia with vitamin E deficiency. This condition is characterized ... development of neurological problems including difficulty coordinating movements (ataxia) due to a buildup of harmful molecules called ...

... the APTX gene have been found to cause ataxia with oculomotor apraxia type 1. This condition is characterized by difficulty coordinating movements (ataxia) and problems with side-to-side movements of ...

... gene have been identified in people with episodic ataxia type 1 (EA1). People with this form of ... have brief episodes of poor coordination and balance (ataxia). Between episodes, many affected individuals experience myokymia, a ...

... 33 times (referred to as long normal). Friedreich ataxia results from an increased number of copies (expansion) ... the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than ...

... gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition ... of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder ...

... the SETX gene have been found to cause ataxia with oculomotor apraxia type 2. This condition is characterized by difficulty coordinating movements (ataxia) and problems with side-to-side movements of ...

... CACNA1A gene have been found to cause episodic ataxia type 2 (EA2), the most common form of episodic ataxia. EA2 is associated with episodes of poor coordination ...

... PNKP gene mutations have been found to cause ataxia with oculomotor apraxia type 4. This condition is characterized by poor coordination and balance (ataxia) and problems with side-to-side movement of ...