Publications by authors named "Anna Wissocq"
Background: Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption of the CAG repeat tract.
Case Presentation: One 23-years-old patient suffers from a severe ataxia, with early-onset and rapid progression of the disease.
Introduction: Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy.
Materials And Methods: Clinical, functional and multimodal retinal imaging data were collected.
Article Synopsis
- This study investigates cognitive impairment in patients with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), focusing on those who are RFC1-positive.* ! -
- Out of 21 patients assessed, 71% had significant cognitive deficits as measured by the Montreal Cognitive Assessment, with some patients showing signs of dementia and mild cognitive impairment.* ! -
- The findings suggest that cognitive issues are common in RFC1-related disorders and should be recognized and routinely evaluated in affected patients.* !