A 28 yo male, C/o slow progressive ataxia and slurred speech. On neurological examination nystagmus, altered cognition. Family history significant.
MRI sagittal T1 and T2w images show:
Marked atrophy of the cerebellum and Brain stem, compensatory enlargement of adjacent Cp angle cisterns and fourth ventricle.
Imaging findings and history is consistent with a clinical diagnosis of Spinocerebellar Degeneration - Spino Cerebellar Ataxia.
Spino Cerebellar Ataxia (SCA)
Atrophy confined to cerebellum and Pons is an imaging wise diagnostic clue.
These neurodegenerative disorders, once termed Olivo Ponto Cerebellar Atrophy (OPCA), comprise a large group of inherited disorders characterized by progressive ataxia and brainstem signs.
DNA analysis in this patient demonstrated SCA Type 2; typically manifests with progressive gait and limb ataxia, dysarthria and slow saccadic eye movements.
The SCA-2 mutation is an expansion of an unstable CAG repeat located in the ataxin-2 gene on chromosome 12q24.1.
Imaging findings and history is consistent with a clinical diagnosis of Spinocerebellar Degeneration - Spino Cerebellar Ataxia.
Spino Cerebellar Ataxia (SCA)
Atrophy confined to cerebellum and Pons is an imaging wise diagnostic clue.
These neurodegenerative disorders, once termed Olivo Ponto Cerebellar Atrophy (OPCA), comprise a large group of inherited disorders characterized by progressive ataxia and brainstem signs.
DNA analysis in this patient demonstrated SCA Type 2; typically manifests with progressive gait and limb ataxia, dysarthria and slow saccadic eye movements.
The SCA-2 mutation is an expansion of an unstable CAG repeat located in the ataxin-2 gene on chromosome 12q24.1.
