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P1‐022: Characterizing abnormal white matter structure in primary progressive aphasia
Author(s) -
Schwindt Graeme,
Graham Naida,
Rochon Elizabeth,
Tang-Wai David,
Black Sandra E.
Publication year - 2010
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2010.05.569
Subject(s) - primary progressive aphasia , diffusion mri , white matter , fractional anisotropy , audiology , arcuate fasciculus , voxel , nuclear medicine , uncinate fasciculus , sma* , psychology , boston naming test , inferior longitudinal fasciculus , medicine , neuroscience , dementia , cognition , pathology , radiology , neuropsychology , mathematics , magnetic resonance imaging , frontotemporal dementia , disease , combinatorics
prion protein gene (PRNP). The phenotypes associated with these genetic forms are Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker (GSS) and fatal familial insomnia (FFI). P102L mutation is usually associated with GSS phenotype. Objective: To describe the phenotypic heterogeneity in a Brazilian family with P102L mutation. Methods: Patient 1 was seen in the Cognitive and Behavioral Neurology Unit of the Hospital das Clinicas of the University of Sao Paulo School of Medicine in 2002 with an atypical and probably genetic dementia. We tracked all clinical, laboratory, neuroimaging and pathological data from the other affected members of the family. Results: Patient 1: woman, age at onset: 27 yo; memory and attention deficits, gate disturbance, progression to severe dementia in 2 years. MRI: brain atrophy. CSF 14.3.3: negative. EEG: excess of lower frequencies. PRNP: P102L, M129V. Patient 2 (uncle of #1): age at onset: 53 yo, rapidly progressive dementia; death in 8 months. Frontal and extrapyramidal syndromes and myoclonias. MRI: frontal atrophy. EEG: non specific changes. Clinical diagnosis of possible CJD; brain biopsy: spongiform encephalopathy. PRNP: not available. Patient 3 (sister of #2): age of onset: 54 yo; dizziness, cognitive decline, gate disturbance and blindness; death after 4 years. MRI: brain atrophy; hyperintensities in frontal and parietal cortex on DWI. PRNP: P102L, M129M. Patient 4 (daughter of #3): age of onset: 36 yo; progressive ataxia, spasticity, back pain, and feet numbness. Mild executive function deficit after 2 years. Severe dementia 7 years after onset. MRI: cerebellar atrophy. PRNP: P102L, M129V. Conclusions: Prion disease associated with P102L mutation presented with high phenotypic heterogeneity in this Brazilian family.