Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients
Autor: | S Duty, R Warburton, K Garrard, Juliet M. Taylor, Ptolemaios G. Sarrigiannis, Marios Hadjivassiliou, Richard A. Grünewald, Nicholas J. Beauchamp, Nigel Hoggard, D Friend, Joanne Martindale, Priya Shanmugarajah, David S Sanders |
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Rok vydání: | 2016 |
Předmět: |
Adult
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Pathology Ataxia Cerebellar Ataxia Mitochondrial disease Disease Diagnosis Differential Young Adult 03 medical and health sciences 0302 clinical medicine Atrophy medicine Humans Genetic Predisposition to Disease Prospective Studies Family history Prospective cohort study Intersectoral Collaboration Genetic testing Cerebellar ataxia medicine.diagnostic_test business.industry Brain Middle Aged medicine.disease Magnetic Resonance Imaging Psychiatry and Mental health Phenotype 030104 developmental biology England Female Interdisciplinary Communication Surgery Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Follow-Up Studies |
Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 88:301-309 |
ISSN: | 1468-330X 0022-3050 |
Popis: | Background Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. Establishing a diagnosis requires a methodical approach with expert clinical evaluation and investigations. We describe the causes of ataxia in 1500 patients with cerebellar ataxia. Methods All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigations, including, where appropriate genetic testing using next-generation sequencing (NGS). Patients were followed up on a 6-monthly basis for reassessment and further investigations if indicated. Results A total of 1500 patients were assessed over 20 years. Twenty per cent had a family history, the remaining having sporadic ataxia. The commonest cause of sporadic ataxia was gluten ataxia (25%). A genetic cause was identified in 156 (13%) of sporadic cases with other causes being alcohol excess (12%) and cerebellar variant of multiple system atrophy (11%). Using NGS, positive results were obtained in 32% of 146 patients tested. The commonest ataxia identified was EA2. A genetic diagnosis was achieved in 57% of all familial ataxias. The commonest genetic ataxias were Friedreich9s ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (10%) and mitochondrial disease (10%). The diagnostic yield following attendance at the Sheffield Ataxia Centre was 63%. Conclusions Immune-mediated ataxias are common. Advances in genetic testing have significantly improved the diagnostic yield of patients suspected of having a genetic ataxia. Making a diagnosis of the cause of ataxia is essential due to potential therapeutic interventions for immune and some genetic ataxias. |
Databáze: | OpenAIRE |
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