Genetics is the backbone of medicine, and particularly Neurology, where a number of disorders have a genetic aetiology and some are complex requiring a dedicated Neurogenetics clinic. At least one designated consultant post each within clinical genetics and neurology is recommended per 2,000,000 patients. 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 first and only monthly adult Neuro-Genetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions of an unknown genetic aetiology. 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, SCA 6, ataxia-telangiectasia. Identification of pathogenic mutations directed screening, treatment, and facilitated onward genetic counselling (n=10, 33%). A number of novel mutations were identified in MAPT (“missing tau mutation” published in Brain), SLCA1 and Progranulin. Phenotypic features not previously reported were seen; e.g. writer's cramp in SCA6; paroxysmal myoclonus in GLUT1 deficiency. Breast cancer screening for ATM mutations carriers and referral to international experts in 2 undiagnosed patients were arranged. New treatments were considered, e.g. triheptanoin in GLUT1 deficiency.
The establishment of a Neuro-genetics clinic has addressed a gap in service and allowed identification of rare and atypical diagnoses. These complex disorders have a unique psychological burden and ideally the clinic should include psychology input.