Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

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Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

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Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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P1476

Genetic Dystonia-ataxia Syndro ...... pproach, and Treatment Options

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P2093

Marcelo Merello

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Patricio Millar Vernetti

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

The basal ganglia and cerebellum interact in the expression of dystonic movement

Expanding the ataxia with oculomotor apraxia type 4 phenotype

Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria

L-type calcium channels contribute to the tottering mouse dystonic episodes

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

The anatomical basis of dystonia: current view using neuroimaging.

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

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373-382

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scholarly article

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10.1002/MDC3.12635

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English

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Malco Rossi

Kailash Phatechand Bhatia

Bettina Balint

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30363394

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diagnosis

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6174447

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