Autosomal Recessive Ataxias |
(onset usually before age 20, although some have late-onset forms) |
Friedreich ataxia (FRDA) |
Ataxia telangiectasia (AT) |
Ataxia with vitamin E deficiency (AVED) |
Abeta and hypobetalipoproteinemia |
AOA1 (ataxia with oculomotor apraxia 1) |
AOA2 (ataxia with oculomotor apraxia 2) |
ARSACS (autosomal recessive spastic ataxia of Charlevoix Saguenay) |
IOSCA (infantile onset cerebellar ataxia) |
Ataxia-telangiectasia variant (ATV1)/Nijmegen Breakage Syndrome |
Spinocerebellar ataxia with neuropathy |
Other Recessive Ataxias |
With hypogonadism |
With myoclonus |
With optic atrophy and mental retardation |
With deafness |
With cataracts and mental retardation (Marinesco-Sjögren) |
Childhood ataxia with CNS hypomyelination/vanishing white matter (CACH) |
Carboxylase deficiencies |
Urea cycle defects |
Aminoacidurias |
Biotinidase deficiency |
Wilson disease |
Hypoceruloplasminemia with ataxia and dysarthria (onset in 40s) |
Sialidosis |
Refsum |
Ceroid lipofuscinosis (Batten disease) |
Leukodystrophies |
Cerebrotendinous xanthomatosis |
Hexosaminidase deficiency |
Xeroderma pigmentosum |
Cockayne syndrome |
Leigh (also mitochondrial inheritance) |
X-Linked |
Fragile X-Tremor Ataxia |
X-linked sideroblastic anemia with ataxia |
Uncomplicated ataxia |
Ataxia with spasticity |
With mental retardation |
With deafness |
Autosomal Dominant Ataxias |
Spinocerebellar ataxias: |
SCA type 1, 2, 3 (Machado-Joseph disease), 4, 5, 6, 7, 8, 10, 11, 12, 13, 14, 15, 16, 17, 18, 20, 21, 25 |
Dentatorubral pallidoluysian atrophy (DRPLA) |
Episodic ataxia type 1 (EA1) |
Episodic ataxia type 2 (EA2) |
Mitochondrial Inheritance |
Coenzyme Q10 (Co-Q10) deficiency |
Mitochondrial encephalomyopathies (MERRF, NARP, KSS) |
Leigh Syndrome |
KSS, Kearns-Sayre syndrome; MERRF, mitochondrial encephalomyopathy with ragged red fibers; NARP, neuropathy, ataxia, retinitis pigmentosa. |
