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Corticobasal Syndrome Associated With the A9D Progranulin Mutation

Spina, Salvatore and Murrell, Jill R. and Huey, Edward D. and Wassermann, Eric M. and Pietrini, Pietro and Grafman, Jordan and Ghetti, Bernardino Corticobasal Syndrome Associated With the A9D Progranulin Mutation. Journal of Neuropathology and Experimental Neurology, 66 (10). pp. 892-900. ISSN 0022-3069 (2007)

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Corticobasal syndrome is characterized by cortical dysfunction and L-dopa-unresponsive Parkinsonism, with asymmetrical onset of clinical presentation and evidence of atrophy and/or hypometabolism at neuroimaging. Recently, the heterogeneous pathologic substrate of corticobasal syndrome has been further expanded to include cases with pathologic diagnosis of frontotemporal lobar degeneration with ubiquitin/TDP-43 (TAR DNA binding protein 43)-positive inclusions associated with progranulin (PGRN) mutations. We report a family in which several individuals have been affected with a dementia/movement disorder phenotype. The proband presented at age 45 with spontaneous left arm levitation, ideational apraxia, asymmetric parkinsonism, and dystonia. Subsequently, he developed limb-kinetic apraxia, left-side hemineglect, memory loss, and executive dysfunction. Magnetic resonance imaging and 18Ffluorodeoxyglucose-positron emission tomography studies revealed severe cerebral cortical atrophy and hypometabolism, which were significantly more pronounced in the parietal lobes (right \> left). Neuropathologic examination displayed the highest degree of degeneration and ubiquitin/TDP-43 pathology in the proband{\textquoteright}s parietal areas. Genetic analysis revealed the presence of the c.26C\>A PGRN mutation in 1 allele. This mutation has been reported in association with hereditary-dysphasic-disinhibition-dementia, Alzheimer-like dementia, progressive supranuclear palsy, and primary progressive aphasia. The peculiar findings observed in this patient indicate that the parietal lobe may represent the most vulnerable anatomical area in some of the PGRN-associated frontotemporal lobar degeneration with ubiquitin/TDP-43-positive inclusion cases.

Item Type: Article
Identification Number: 10.1097/nen.0b013e3181567873
Additional Information: Fulltext available online
Uncontrolled Keywords: Alien limb; Apraxia; Frontotemporal lobar degeneration; Hemineglect; Parietal lobe; Progranulin; TDP-43
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Research Area: Computer Science and Applications
Depositing User: Caterina Tangheroni
Date Deposited: 29 Feb 2016 10:04
Last Modified: 29 Feb 2016 10:04
URI: http://eprints.imtlucca.it/id/eprint/3161

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