Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia

Journal of Alzheimer's Disease

Volumn 30, Issue 1, 2012, Pages 83-90

  Taipa, Ricardo ^a   Tuna, Assunço ^a   Damásio, Joana ^a   Pinto, Pedro S ^a   Cavaco, Sara ^a   Pereira, Sonia ^b   Milterberger Miltenyi, Gabriel ^b   Galimberti, Daniela ^c   Melo Pires, Manuel ^a  

^a HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^b UNIVERSITY OF LISBON   (Portugal)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Frontotemporal lobar degeneration (FTLD); parietal lobe; parkinsonism; progranulin; TDP43

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PROGRANULIN; TAR DNA BINDING PROTEIN;

ADULT; AGGRESSIVENESS; AMYGDALOID NUCLEUS; ARTICLE; ATTENTION; AUTOSOMAL DOMINANT DISORDER; BASAL GANGLION; BEHAVIOR DISORDER; BRADYKINESIA; BRAIN ATROPHY; BRAIN CORTEX; BRAIN STEM; CASE REPORT; CAUDATE NUCLEUS; CEREBELLUM; CEREBELLUM CORTEX; CINGULATE GYRUS; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS STRIATUM; DEPTH PERCEPTION; DISEASE COURSE; DNA SEQUENCE; DYSTONIA; EXECUTIVE FUNCTION; FAMILY HISTORY; FRONTAL CORTEX; FRONTOTEMPORAL DEMENTIA; GAIT DISORDER; GASTROSTOMY; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC TRANSCRIPTION; GLIOSIS; HEMISPHERE; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMPULSIVENESS; INTROSPECTION; IRRITABILITY; LANGUAGE; LOCUS CERULEUS; MALE; MEMORY; MUTISM; NEOCORTEX; NEURITE; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OCCIPITAL CORTEX; OCCIPITAL LOBE; PARIETAL CORTEX; PARIETAL LOBE; PARKINSONISM; PERCEPTION; PERSONALITY DISORDER; PLANNING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOSOCIAL WITHDRAWAL; PUTAMEN; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY TRACT INFECTION; RESTLESSNESS; RIGIDITY; RNA SPLICING; SOCIAL BEHAVIOR; SOCIAL CONTROL; SPEECH DISCRIMINATION; SUBSTANTIA NIGRA; TEMPORAL CORTEX; TREMOR;

EID: 84861499945     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-112084     Document Type: Article

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