“Frontotemporoparietal” dementia
Adult
Male
Brain Diseases
Depression
Mental Disorders
Sequence Analysis, DNA
Middle Aged
Neuropsychological Tests
3. Good health
03 medical and health sciences
Phenotype
Progranulins
0302 clinical medicine
Parietal Lobe
Mutation
Disease Progression
Humans
Intercellular Signaling Peptides and Proteins
Female
Prospective Studies
Age of Onset
Frontotemporal Lobar Degeneration
Aged
DOI:
10.1212/wnl.0b013e3181bd82a7
Publication Date:
2009-10-26T20:29:18Z
AUTHORS (11)
ABSTRACT
Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions. Most previous studies aimed at characterizing the clinical and neuropsychological phenotype of PGRN mutation carriers included patients with different PGRN mutations, assuming that the common proposed pathogenetic mechanism of haploinsufficiency will lead to a comparable phenotype.We studied 21 patients with a single pathogenic splicing mutation in the PGRN gene (c.709-1G>A) in the same tertiary referral center using homogenous diagnostic criteria and protocols. All patients were of Basque descent.Patients exhibited a variable phenotype both in age at onset and initial symptoms. Behavioral variant frontotemporal dementia (52.4%) and progressive nonfluent aphasia (23.8%) were the most common presenting syndromes. Apathy was the most common behavioral symptom. Patients developed a relatively rapidly progressive dementia with features that led to a secondary diagnosis in 61.9% of cases 2 years after primary diagnosis. Notably, this secondary or tertiary diagnosis was corticobasal syndrome in 47.6% of cases, which confirmed the neuropsychological features of parietal lobe dysfunction seen at the initial assessment in 81.8% of patients.Patients carrying the c.709-1G>A mutation in the PGRN gene showed heterogeneous clinical and neuropsychological features and commonly developed corticobasal syndrome as the disease progressed.
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CITATIONS (29)
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