WorldCat Identities

Gass, Jennifer M.

Overview
Works: 3 works in 3 publications in 1 language and 5 library holdings
Roles: Other
Publication Timeline
.
Most widely held works by Jennifer M Gass
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics by Patrick Blackburn( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1 by Charu Kaiwar( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor( )

1 edition published in 2017 in English and held by 1 WorldCat member library worldwide

Abstract : Introduction: Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature. Case Report: In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor. Conclusions: Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease
 
Audience Level
0
Audience Level
1
  Kids General Special  
Audience level: 0.95 (from 0.88 for A novel AN ... to 0.97 for A novel AN ...)

Languages