Portal de Periódicos da CAPES

“Frontotemporoparietal” dementia

2009; Lippincott Williams & Wilkins; Volume: 73; Issue: 17 Linguagem: Inglês

10.1212/wnl.0b013e3181bd82a7

1526-632X

Fermín Moreno, Begoña Indakoetxea, Myriam Barandiarán, Ainhoa Alzualde, Alazne Gabilondo, Ainara Estanga, Julio Ruiz, M. Ruibal, Alberto Bergareche, J.F. Martí-Massó, Adolfo López de Munaín,

Parkinson's Disease Mechanisms and Treatments

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.