Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 169-178 |
| Number of pages | 10 |
| Journal | Applied Neuropsychology |
| Volume | 12 |
| Issue number | 3 |
| DOIs | |
| State | Published - 2005 |
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Keywords
- Fragile X premutation
- Fragile X-associated tremor/ataxia syndrome
- Progressive dementia
ASJC Scopus subject areas
- Neuropsychology and Physiological Psychology
Cite this
An atypical progressive dementia in a male carrier of the fragile X premutation : An example of fragile X-associated tremor/ataxia syndrome. / Mothersead, Philip K.; Conrad, Kimberly; Hagerman, Randi J; Greco, Claudia M.; Hessl, David R; Tassone, Flora.
In: Applied Neuropsychology, Vol. 12, No. 3, 2005, p. 169-178.Research output: Contribution to journal › Article
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TY - JOUR
T1 - An atypical progressive dementia in a male carrier of the fragile X premutation
T2 - An example of fragile X-associated tremor/ataxia syndrome
AU - Mothersead, Philip K.
AU - Conrad, Kimberly
AU - Hagerman, Randi J
AU - Greco, Claudia M.
AU - Hessl, David R
AU - Tassone, Flora
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
KW - Fragile X premutation
KW - Fragile X-associated tremor/ataxia syndrome
KW - Progressive dementia
UR - http://www.scopus.com/inward/record.url?scp=23944462630&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=23944462630&partnerID=8YFLogxK
U2 - 10.1207/S15324826AN1203_7
DO - 10.1207/S15324826AN1203_7
M3 - Article
C2 - 16131344
AN - SCOPUS:23944462630
VL - 12
SP - 169
EP - 178
JO - Applied neuropsychology. Adult
JF - Applied neuropsychology. Adult
SN - 0908-4282
IS - 3
ER -