Table 1 Common forms of hereditary ataxia (HA)
From: Therapeutic roles of natural remedies in combating hereditary ataxia: A systematic review
Hereditary ataxia | Ethnicity | Gene and locus of mutation | Clinical presentation | Neuroimaging finding | Neurometabolite finding | Biochemical finding | Reference | |
|---|---|---|---|---|---|---|---|---|
Motor symptom | Non-motor symptom | |||||||
Autosomal dominant | ||||||||
 SCA1 | Russian, Polish, Indian, Japanese and Eastern Siberian | ATXN1 on chromosome 6p22.3 | Gait ataxia, pyramidal, extrapyramidal and bulbar signs, dysarthria, nystagmus, chorea and peripheral neuropathy | Cognitive impairment and respiratory failure | Atrophy of the cerebellum, brainstem and cerebral frontal lobe | Decreased glutamate, tNAA, NAA/Cr ratio and Cho/Cr ratio Increased glutamine, myoinositol and tCr | Increased lactate | |
 SCA2 | Cuban, Korean, South African and Indian | ATXN2 on chromosome 12q24.12 | Gait ataxia, pyramidal and extrapyramidal signs, dysarthria and dysphagia | Cognitive impairment, psychiatric symptoms, sleep disturbances and slow saccadic eye movements | Atrophy of cerebellum, brainstem, cerebral frontal lobe, spinal cord and cranial nerves III to XII | Decreased glutamate, tNAA, NAA/Cr ratio and Cho/Cr ratio Increased myoinositol and tCr | Decreased GSH, GST, SOD, CAT, zinc, iron, copper, erythropoietin, dopamine metabolites and ethanolamine Increased MDA | |
 SCA3/MJD | Portuguese, Japanese, Taiwanese, German and Brazilian | ATXN3 on chromosome 14q32.12 | Gait ataxia, pyramidal and extrapyramidal signs, nystagmus, lid retraction, decreased saccade velocity, amyotrophy fasciculations and peripheral neuropathy | Mild cognitive impairment, sleep disturbances and involuntary weight loss | Atrophy of cerebellum, brainstem, cerebellar peduncle and cranial nerves III to XII | Decreased glutamate, tNAA, NAA/Cr ratio, Cho/Cr ratio, tNAA/tCr ratio and Glx/tCr ratio Increased myoinositol and tCr | Decreased GPx, l-Proline and l-Tryptophan Increased palmitoleic acid (FFA 16:1) and linolenic acid (FFA 18:3) | |
 SCA6 | Japanese, American, German, Australian and Dutch | CACNA1A on chromosome 19p13.13 | Gait ataxia, pyramidal signs, dysarthria, nystagmus, intention tremor, dystonia and dysphagia | Diplopia | Atrophy of cerebellum | Decreased NAA and NAA/Cr ratio Increased myoinositol | Increased glucose, taurine and lactate | |
 SCA7 | South African, Mexican and Scandinavian | ATXN7 on chromosome 3p14.1 | Gait ataxia, pyramidal signs, slow eye movements, dysmetria, hyperreflexia, dysarthria, dysphagia and ophthalmoplegia | Visual loss with retinopathy, cognitive impairment and psychiatric symptoms | Atrophy of cerebellum, brainstem, cerebral peduncle and spinal cord | Decreased glutamate and tNAA Increased myoinositol and tCr | Increased lipid hydroperoxides, MDA, protein carbonyls, GR, GPx and paraoxonase | |
 SCA17/HDL4 | Japanese, German and Italian | TBP on chromosome 6q27 | Gait ataxia, pyramidal and extrapyramidal signs, chorea and myoclonus | Cognitive impairment and psychiatric symptoms | Atrophy in cerebellum, brainstem and cerebrum | N/A | Decreased presynaptic dopamine transporters | |
 EA1 | Australian, Caucasian, American and Russian | KCNA1 on chromosome 12p13 | Gait ataxia (attack last from seconds to minutes), dysarthria, seizure, myokymia, neuromyotonic and tremor | Vertigo, difficulty in breathing and diaphoresis | Normal brain | N/A | Increased GABA release | |
 EA2 | Caucasian and Korean | CACNA1A on chromosome 19p13 | Gait ataxia (attack last from minutes to hours), dysarthria, seizure, nystagmus and dystonia | Vertigo, nausea, headache, diplopia, tonic upward gaze and cognitive impairment | Atrophy of cerebellum | Decreased Cr and high-energy phosphate ratio | Increased lactate | |
Autosomal recessive | ||||||||
 FRDA | Caucasian, Middle East and North African | FXN on chromosome 9q21.11 | Gait ataxia, eye movement abnormalities, dysarthria, dysphagia, lower extremities weakness and peripheral neuropathy | Skeletal deformities, hypertrophic cardiomyopathy, diabetes, deafness and optic atrophy | Atrophy of cerebellum and cervical spinal cord | Decreased NAA/Cr ratio and Cho Increased glutamine, myoinositol and tCr | N/A | |
 AT | Iberian, Polish and Russian | ATM on chromosome 11q22.3 | Gait ataxia, extrapyramidal signs, oculomotor apraxia, hypotonia, areflexia and peripheral neuropathy | Oculocutaneous telangiectasia, immunodeficiency, cancer susceptibility, sterility, extreme radio sensitivity, diabetes and pulmonary diseases | Atrophy of cerebellum and brainstem | Decreased NAA, Cho, NAA/Cho ratio and Cr Increased Cho and Cho/Cr ratio | Decreased IgA, IgM, IgG2, IgE and absence of ATM protein Increased AFP | |
 AOA1 | Japanese and Portuguese | APTX on chromosome 9p21.1 | Gait ataxia, extrapyramidal signs, oculomotor apraxia, areflexia, dysarthria, choreoathetosis, oculomotor apraxia and peripheral neuropathy | Cognitive impairment and skeletal deformities | Atrophy of cerebellum | N/A | Decreased albumin level Increased creatine kinase and total cholesterol | |
 AOA2 | Eastern French | SETX on chromosome 9p34.13 | Gait ataxia, pyramidal and extrapyramidal signs, oculomotor apraxia, chorea, upper motor neuron signs, head tremor, strabismus and peripheral neuropathy | Mild cognitive impairment | Atrophy of cerebellum | Decreased glutamate, NAA and NAA/Cho ratio Increased myoinositol | Increased creatinine kinase, total cholesterol, AFP, IgG and IgA | |
X-linked | ||||||||
 FXTAS | Caucasian | FMR1 on X chromosome | Gait ataxia, intention tremor, eye movement abnormalities and peripheral neuropathy | Cognitive impairment, psychiatric symptoms, hearing loss and dysautonomia | Atrophy of cerebellum and cerebrum | Decreased NAA | N/A | |