Wide phenotypic spectrum of the TARDBP gene: Homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject

Neurobiology of Aging

Volumn 33, Issue 8, 2012, Pages 1846.e1-1846.e4

  Mosca, Lorena ^a   Lunetta, Christian ^a   Tarlarini, Claudia ^a   Avemaria, Francesca ^a   Maestri, Eleonora ^a   Melazzini, Mario ^a   Corbo, Massimo ^a   Penco, Silvana ^a  

^a OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

ALS; Genetic counseling; Phenotypic spectrum; TDP 43 mutation

Indexed keywords

ALANINE; CABERGOLINE; IMMUNOGLOBULIN; LEVODOPA; PREDNISONE; TAR DNA BINDING PROTEIN; THREONINE; DNA BINDING PROTEIN; PROTEIN TDP-43;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; APATHY; ARTICLE; BRADYKINESIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE DURATION; DRUG MEGADOSE; DRUG TREATMENT FAILURE; DYSPHAGIA; DYSPNEA; ELECTROMYOGRAPHY; FEMALE; FRONTOTEMPORAL DEMENTIA; GAIT DISORDER; GENETIC ASSOCIATION; GENETIC VARIABILITY; HALLUCINATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MOLECULAR PATHOLOGY; MUSCLE RIGIDITY; MUTATIONAL ANALYSIS; MUTATOR GENE; NERVE BIOPSY; PARKINSON DISEASE; PEDIGREE ANALYSIS; POLYNEUROPATHY; PRIORITY JOURNAL; SPEECH DISORDER; TAR DNA BINDING PROTEIN 43 GENE; GENETICS; MIDDLE AGED; MUTATION; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; DNA-BINDING PROTEINS; FRONTOTEMPORAL LOBAR DEGENERATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84861860140     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2012.01.108     Document Type: Article

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