| GRAND ROUNDS: an atypical progressive dementia in a male carrier of the fragile X premutation: an example of fragile X-associated tremor/ataxia syndrome. | |
| | |
MedLine Citation:
|
PMID: 16131344 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
This case study describes a 65-year-old man initially diagnosed with an atypical rapidly progressive dementia who subsequently participated in a research project at the MIND Institute at the University of California-Davis, where he was diagnosed with a recently identified neurodegenerative syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS). He was a carrier of the fragile X premutation and in later life developed tremor, gait ataxia, parkinsonism, and cognitive deficits that progressed very rapidly. This case study provides a detailed description of the individual's history, presenting symptoms, neuropsychological test results, and postmortem neuropathological analysis. Pathological findings showed diagnostic features of both FXTAS and Alzheimer's disease, which might help to explain the rapid progression of his dementia. |
| | |
Authors:
|
Philip K Mothersead; Kimberly Conrad; Randi J Hagerman; Claudia M Greco; David Hessl; Flora Tassone |
Related Documents
:
|
17625034 - Oesophageal denture impaction producing horner's syndrome: a case report. 1031414 - Sympathetic disorders in obstetrical paralysis of the newborn. 20410144 - Abnormal n400 word repetition effects in fragile x-associated tremor/ataxia syndrome. 907534 - Gustatory phenomena after upper dorsal sympathectomy. 21087784 - Opalski syndrome detected on dwi mri: a rare lateral medullary infarction. case report ... 11130384 - Pain expression and stimulus localisation in individuals with down's syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
|
Title: Applied neuropsychology Volume: 12 ISSN: 1532-4826 ISO Abbreviation: Appl Neuropsychol Publication Date: 2005 |
Date Detail:
|
Created Date: 2005-08-31 Completed Date: 2008-07-10 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9507620 Medline TA: Appl Neuropsychol Country: United States |
Other Details:
|
Languages: eng Pagination: 169-78 Citation Subset: IM |
Affiliation:
|
Neuropsychology & Rehabilitation, St. John's Health Center, Springfield, Missouri 65804-2263, USA. pmothersead@sprg.mercy.net |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Aged Ataxia / etiology, genetics Dementia / etiology*, genetics Disease Progression Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / complications*, genetics Humans Male Mutation / genetics* Neuropsychological Tests Tremor / etiology, genetics |
| Grant Support | |
ID/Acronym/Agency:
|
HD36071/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
|
139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Learning performance on the discrimination-shift task in patients with cortical and subcortical lesi...
Next Document: Intracellular colocalization and interaction of IGF-binding protein-2 with the cyclin-dependent kina...