A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

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Title: A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Authors: Budhdeo S; Department for Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., de Paiva ARB; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil., Wade C; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Lopes LCG; Department of Neurology, Psychology and Psychiatry, Universidade Estadual de São Paulo (UNESP), Botucatu, SP, Brazil., Della-Ripa B; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Davagnanam I; Lysholm Department of Neuroradiology, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Lucato L; Diagnostic Neuroradiology Section, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Mummery CJ; Dementia Research Centre, Department of Neurodegenerative Disease, National Hospital for Neurology and Neurosurgery, London, UK., Kok F; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Werring DJ; Stroke Research Centre, UCL Queen Square Institute of Neurology, London, UK., Lynch DS; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. david.lynch.13@ucl.ac.uk.; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK. david.lynch.13@ucl.ac.uk.
Source: Journal of neurology [J Neurol] 2022 Dec; Vol. 269 (12), pp. 6673-6677. Date of Electronic Publication: 2022 Jul 29.
Publication Type: Case Reports; Letter
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1432-1459
DOI:10.1007/s00415-022-11302-9