Spinocerebellar Ataxia, Autosomal Recessive 12

Alternative Names

  • SCAR12
  • Spinocerebellar Ataxia with Mental Retardation and Epilepsy
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

614322

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q23.1-q23.2

Description

Autosomal recessive spinocerebellar ataxia-12 (SCAR12) is an extremely rare neurologic disorder which involves central, peripheral nervous system and other organs.  It is characterized by onset of generalized seizures in infancy.  The prominent clinical feature includes progressive incoordination of gait and poor coordination of hands, eyes and speech.  Patients also have delayed psychomotor development, spasticity and intellectual disability. The age of onset and disease progression varies among affected individuals.

Molecular Genetics

Mutations in the WWOX gene are responsible for causing SCAR12.  This gene codes for a member of the short-chain dehydrogenases/reductases (SDR) protein family.  The WWOX protein acts as a tumor suppressor and is able to induce apoptosis.  In addition to SCAR12, defects in the WWOX gene have also been implicated in several kinds of cancers, especially epithelial cancers and myelomas.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Gribaa et al. (2007) described four Saudi siblings evaluated for their psychomotor retardation and epilepsy.  The onset of clinical presentation was noted between the age of 9 -12 months, with onset of ataxia at the age of 2-3 years.  Parents were consanguineous and had three other healthy children.  Ophthalmic examination showed nystagmus without apraxia.  Routine laboratory investigations were unremarkable.  MRI of the brain was performed for two patients and revealed mild cerebellar vermis atrophy.  In two of the patients, the EEG showed the presence of spikes and multispikes.  Linkage analysis on this family identified a new locus on 16q21-23 for this condition of autosomal recessive ataxia associated with psychomotor retardation and epilepsy. 

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