Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
| Autor: | Francesca Magrinelli, Henry Houlden, Eoin Mulroy, Carlos Estevez-Fraga, Davina J. Hensman Moss, Sarah J. Tabrizi, Kailash P. Bhatia, Anna Latorre, Melissa Mackenzie, Giulia Di Lazzaro |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Movement disorders Parkinson's disease Parkinsonism 03 medical and health sciences 0302 clinical medicine Internal medicine mental disorders medicine Cervical dystonia Amyotrophic lateral sclerosis Genetics (clinical) Essential tremor business.industry Chorea medicine.disease nervous system diseases 030104 developmental biology Neurology (clinical) medicine.symptom business Myoclonus 030217 neurology & neurosurgery Frontotemporal dementia |
| ISSN: | 2376-7839 |
| Popis: | ObjectiveHexanucleotide repeat expansions (HREs) in C9orf72 are a major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We aimed to determine the frequency and phenomenology of movement disorders (MD) in carriers of HRE in C9orf72 through a retrospective review of patients' medical records.MethodsWe retrospectively reviewed the clinical records of patients carrying a C9orf72 HRE in the pathogenic range and compared the characteristics of patients with and without MD.ResultsSeventeen of 40 patients with a C9orf72 HRE had a documented MD. In 6 of 17, MD were the presenting symptom, and in 2 of 17, MD were the sole manifestation of the disease. FTD was present in 13 of 17 patients, ALS in 5 of 17 patients, and 2 of 17 patients did not develop FTD or ALS. Thirteen of 17 patients had more than one MD. The most common MD were parkinsonism and tremor (resembling essential tremor syndrome), each one present in 11 of 17 patients. Distal, stimulus-sensitive upper limbs myoclonus was present in 6 of 17 patients and cervical dystonia in 5 of 17 patients. Chorea was present in 5 of 17 patients, 4 of whom showed marked orofacial dyskinesias. The most frequent MD combination was tremor and parkinsonism, observed in 8 of 17 patients, 5 of whom also had myoclonus. C9orf72 patients without MD had shorter follow-up times and higher proportion of ALS, although these results did not survive the correction for multiple comparisons.ConclusionsMD are frequent in C9orf72. They may precede signs of ALS or FTD, or even be present in isolation. Parkinsonism, tremor, and myoclonus are most commonly observed. |
| Databáze: | OpenAIRE |
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