Journal article
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
Journal of child neurology, Vol.31(9), pp.1161-1165
08/2016
DOI: 10.1177/0883073816643408
PMID: 27071470
Abstract
Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the cohort with Friedreich ataxia was compared with prevalence in the population without Friedreich ataxia. Ten patients (1.6%) had inflammatory bowel disease, 3.5 times more common in this cohort of individuals with Friedreich ataxia than in the general population. Four subjects were growth hormone deficient, reflecting a prevalence in Friedreich ataxia that is 28 times greater than the general population. The present study identifies specific diagnoses not traditionally associated with Friedreich ataxia that are found at higher frequency in this disease. These associations could represent coincidence, shared genetic background, or potentially interactive disease mechanisms with Friedreich ataxia.
Details
- Title: Subtitle
- Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
- Creators
- Julianna E Shinnick - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USAKimberly Schadt - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USACassandra Strawser - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USANicholas Wilcox - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USASusan L Perlman - Department of Neurology, University of California, Los Angeles, Los Angeles, CA, USAGeorge R Wilmot - Department of Neurology, Emory University, Atlanta, GA, USAChristopher M Gomez - Department of Neurology, University of Chicago, Chicago, IL, USAKatherine D Mathews - Department of Neurology, University of Iowa, Iowa City, IA, USAGrace Yoon - Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaTheresa Zesiewicz - Department of Neurology, University of South Florida, and the James A. Haley Veterans' Administration Hospital, Tampa, FL, USAChad Hoyle - Department of Neurology, Ohio State University, Columbus, OH, USAS H Subramony - Department of Neurology, University of Florida, Gainesville, FL, USAEppie M Yiu - Murdoch Children's Research Institute, Melbourne, AustraliaMartin B Delatycki - Murdoch Children's Research Institute, Melbourne, AustraliaAlicia F Brocht - Department of Neurology, University of Rochester, Rochester, NY, USAJennifer M Farmer - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USADavid R Lynch - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA lynchd@mail.med.upenn.edu
- Resource Type
- Journal article
- Publication Details
- Journal of child neurology, Vol.31(9), pp.1161-1165
- Publisher
- United States
- DOI
- 10.1177/0883073816643408
- PMID
- 27071470
- ISSN
- 0883-0738
- eISSN
- 1708-8283
- Language
- English
- Date published
- 08/2016
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984014019602771
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