Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
| Autor: | Pedro Gonzalez-Alegre, David S. Goldstein, Tanya Bardakjian, Diana Nguyen, Debra Ehrlich, Alice B. Schindler, Derek P. Narendra, Risa Isonaka, Angela Kokkinis, Tsao-Wei Liang |
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| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Synucleinopathies Hearing loss business.industry PARK7 Parkinson Disease Disease medicine.disease Cataract Peripheral 03 medical and health sciences 0302 clinical medicine Cataracts Upper motor signs medicine Humans 030212 general & internal medicine Neurology (clinical) Lower motor neuron signs medicine.symptom business Hearing Loss 030217 neurology & neurosurgery Founder effect |
| Zdroj: | Neurology. 94(21) |
| ISSN: | 1526-632X |
| Popis: | We welcome the additional confirmed DJ1/PARK7 case and another probable case reported by Namnah et al. in their comment on our article.1 They further substantiate the occurrence of early cataracts in DJ1/PARK7 present in 5/35 (14.3%) cases. The case reported by Namnah et al. also highlights lower and upper motor signs in DJ1/PARK7 patients. Lower motor neuron signs are now documented in 8/35 (22.9%) cases and upper motor neuron signs in 10/35 (28.6%) cases. Finally, it is notable that the 2 patients of Iranian-Jewish ancestry described by Namnah et al. carry a mutation recently identified in another family of Iranian-Jewish descent (GRCh37:NM_007262.4:c.80dupG, p[Ile31Aspfs*2]), consistent with a founder effect in this population.2 |
| Databáze: | OpenAIRE |
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