The experience of the first Adult Neurogenetic Clinic in Ireland
Diane Olszewska, Prof Tim Lynch, DNI, Terri McVeigh, Dr Gregory Pastores, Genetics Dept, MMUH
Diane Olszewska, Research Fellow to Prof Tim Lynch, Dublin Neurological Institute
Genetics is the backbone of medicine, and particularly Neurology, where a number of disorders have a genetic aetiology. Some of these disorders are complex and make management difficult, requiring a dedicated Neurogenetics clinic. At least one designated consultant post each within clinical genetics and neurology is recommended per 2,000,000 patients1. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe2.
In November 2014, we established the first and only monthly adult Neuro-Genetics clinic in Ireland, staffed by 1 consultant neurologist, 1 consultant geneticist, 1 neurology registrar and 1 registrar in Clinical Genetics. The clinic is attended by patients and families with complex rare neurological conditions of an unknown genetic aetiology. We performed a retrospective cohort analysis after one year, reviewing data regarding symptoms and diagnostic work-up.
Twenty-five patients attended a pilot clinic over 12 months. Complex conditions encountered included: Parkin-related Parkinson’s disease, leucodystrophy, ataxia (pure, familial and spastic), Fronto-temporal lobar degeneration (FTLD), Spino-cerebellar Ataxia (SCA) 6, and ataxia-telangiectasia. Identification of pathogenic mutations directed screening and treatment, and facilitated onward referral of family members for genetic counselling (n=8, 33%). A number of novel mutations were identified in MAPT (“missing tau” mutation)3, SLCA1 and Progranulin. A number of patients had phenotypic features not previously reported; e.g. writer’s cramp in SCA6; paroxysmal myoclonus in GLUT1 deficiency. Appropriate referrals were made for non-neurological sequelae of genetic mutations, e.g. breast cancer screening for carriers of ATM mutations. New treatments were considered based on genetic diagnoses, e.g. triheptanoin in GLUT1 deficiency. We appropriately referred undiagnosed complex patients (n=2) to international experts. Conclusion: The establishment of a joint Neuro-genetics clinic has addressed a gap in service provision for complex families with neurogenetic disorders, has allowed identification of rare and atypical diagnoses. These complex disorders have a unique psychological burden, and ideally, the clinic should be expanded to include input from psychology.
1. Genetic Services for Neurological Disorders, ABN and Clinical Genetics Society Report, 2003.
3 Brain. 2015 Oct;138 (PT 10):3100-9
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