SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit

Autor:	Lazaro Luis Faria do Amaral, Orlando Graziani Povoas Barsottini, Marcondes C. França, Victor Hugo Rocha Marussi, José Luiz Pedroso, Thiago Cardoso Vale, Fabiana Lucas Bueno
Rok vydání:	2018
Předmět:	0301 basic medicine Levodopa medicine.medical_specialty Ataxia business.industry Gait Disturbance Parkinsonism Dopaminergic Urinary incontinence medicine.disease nervous system diseases 03 medical and health sciences Dysarthria 030104 developmental biology 0302 clinical medicine Physical medicine and rehabilitation Neurology Brain mri Medicine Neurology (clinical) Geriatrics and Gerontology medicine.symptom business 030217 neurology & neurosurgery medicine.drug
Zdroj:	Parkinsonism & Related Disorders. 47:88-90
ISSN:	1353-8020
Popis:	We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e1a0411e1c56aa0c6f05b26284ee722c https://doi.org/10.1016/j.parkreldis.2017.12.004 Zobrazit plný text záznamu Full Text from ScienceDirect