Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation

Journal of the Neurological Sciences

Volumn 308, Issue 1-2, 2011, Pages 168-172

  Takeshita, Eri ^a,b   Saito, Yoshiaki ^a   Nakagawa, Eiji ^a   Komaki, Hirofumi ^a   Sugai, Kenji ^a   Sasaki, Masayuki ^a   Nezu, Atsuo ^c   Kitamura, Junichi ^d   Itoh, Masayuki ^b   Sawano, Yoshie ^b   Goto, Yu Ichi ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c Department of Pediatrics   (Japan)

^d Fureai Higashi Totsuka Hospital   (Japan)

Author keywords

Asymmetrical dystonia; Genotype; MECP2; Phenotype; Preserved speech variant; Rett syndrome; Truncating mutation

Indexed keywords

4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; AMINO ACID; BIOPTERIN; LEVODOPA; MELATONIN; METHYL CPG BINDING PROTEIN 2; NEOPTERIN; VANILMANDELIC ACID;

3' UNTRANSLATED REGION; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; BRAIN ISCHEMIA; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CHROMOSOME ANALYSIS; CORPUS STRIATUM; DEVELOPMENTAL SCREENING; DYSTONIA; EXON; FEMALE; FRAMESHIFT MUTATION; FRONTAL CORTEX; FRONTAL LOBE; GENE DELETION; HEAD CIRCUMFERENCE; HUMAN; JOINT LIMITATION; KARYOTYPE; KYPHOSIS; LIMB TREMOR; MENTAL DETERIORATION; MUSCLE TONE; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SLEEP DISORDER; SPEECH DISORDER; STEREOTYPY; STOP CODON; TEMPORAL CORTEX; WILD TYPE;

ADULT; DYSTONIA; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; RETT SYNDROME;

EID: 80051578739     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.06.008     Document Type: Article

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