publication . Other literature type . Article . 2014

ALS-Plus syndrome: non-pyramidal features in a large ALS cohort.

Leo McCluskey; Shannon Vandriel; Lauren Elman; Vivianna M Van Deerlin; John Powers; Ashley Boller; Elisabeth McCarty Wood; John Woo; Corey T McMillan; Katya Rascovsky; ...
Open Access English
  • Published: 18 Jul 2014
Abstract Objective Autopsy studies show widespread pathology in amyotrophic lateral sclerosis (ALS), but clinical surveys of multisystem disease in ALS are rare. We investigated ALS-Plus syndrome, an understudied group of patients with clinical features extending beyond pyramidal and neuromuscular systems with or without cognitive/behavioral deficits. Methods In a large, consecutively-ascertained cohort of 550 patients with ALS, we documented atypical clinical manifestations. Genetic screening for C9orf72 hexanucleotide expansions was performed in 343 patients, and SOD1 , TARDBP , and VCP were tested in the subgroup of patients with a family history of ALS. Gray...
free text keywords: Article, Neurology, Clinical Neurology, TARDBP, Cohort study, Amyotrophic lateral sclerosis, medicine.disease, medicine, Cohort, C9orf72, Physical therapy, medicine.medical_specialty, White matter, medicine.anatomical_structure, Autopsy, business.industry, business, Family history
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