RESUMEN
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 20â 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 Friedreich's 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.
Asunto(s)
Ataxia Cerebelosa/etiología , Adulto , Encéfalo/diagnóstico por imagen , Ataxia Cerebelosa/diagnóstico , Ataxia Cerebelosa/genética , Diagnóstico Diferencial , Inglaterra , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad/genética , Humanos , Comunicación Interdisciplinaria , Colaboración Intersectorial , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Fenotipo , Estudios Prospectivos , Adulto JovenRESUMEN
Effects of child age and child intelligence on mothers' use of verbal directives with delayed and nondelayed children ages 2.5 to 3 years and 4.5 to 5 years were examined. Mothers used significantly more directives with 2- and 4-year-old delayed children than with 2- and 4-year-old nondelayed children. The means of mothers' directives for 2- and 4-year-old children were similar for both groups. When mothers' directive scores to nondelayed 2-year-old and delayed 4-year-old children were plotted according to the children's comparable mean lengths of utterance, mothers' directives for the delayed 4-year-old children exceeded those for the nondelayed 2-year-old children with few exceptions.