The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital

AbstractGenetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history. We performed a retrospective cohort analysis, reviewing symptoms and work-up data. Twenty-seven patients attended a pilot clinic over 12  months. Conditions encountered included Parkin-related PD, leucodystrophy, ataxia, fronto-temporal lobar degeneration, spinocerebellar ataxia type 6 (SCA6) and ataxia-telangiectasia. Identification of pathogenic mutations directed screening, treatment and facilitated onward genetic counselling (n = 10, 33%). A number of novel mutations were identified inMAPT gene ( “missing tau mutation” McCarthy et al., Brain, 2015),SLCA1 gene andGRN (progranulin). Phenotypic features not previously reported were seen; e.g. writer ’s cramp in SCA6; paroxysmal myoclonus in the glucose transporter protein type 1 (GLUT1) deficiency. Breast cancer screening forATM mutations carriers and referral to international experts in two undiagnosed patients were arrange...

Source: Irish Journal of Medical Science - March 9, 2018 Category: General Medicine Source Type: research