Cargando…
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by homozygous mutations in SACSgene. We present finding on MR imaging in 2 adult Italian siblings. According to the literature we have described same of typical MRI finding of autosomal recessive sp...
Autores principales: | Pensabene, Maria Claudia, Melis, Milena, Corato, Laura De, Stefano, Carla Di, Pizzicannella, Giulia, Mondillo, Mariateresa, Amico, Andrea, Tatulli, Doriana, Floris, Roberto |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044677/ https://www.ncbi.nlm.nih.gov/pubmed/32140197 http://dx.doi.org/10.1016/j.radcr.2019.12.024 |
Ejemplares similares
-
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
por: Aida, Izumi, et al.
Publicado: (2021) -
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Borruat, François-Xavier, et al.
Publicado: (2017) -
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
por: Incecik, Faruk, et al.
Publicado: (2018) -
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
por: Bagaria, Jaya, et al.
Publicado: (2022) -
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to
Novel Mutations in the SACS Gene
por: Sharma, Rohan, et al.
Publicado: (2022)