Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case.
نویسندگان
چکیده
1. Cardoso F, Seppi K, Mair KJ, et al. Seminar on choreas. Lancet Neurol 2006;5:589-602. 2. Nagaoka T, Matsushita S, Nagai Y, Kobayashi K. A woman who trembled, then had chorea. Lancet 1998;351:1326. 3. Ristić AJ, Svetel M, Dragaševic N, et al. Bilateral choreaballism associated with hyperthyroidism. Mov Disord 2004;19: 982-983. 4. Heoffron W, Eaton RP. Thyrotoxicosis presenting as choreoathetosis. Ann Intern Med 1970;73:425-428. 5. Fidler SM, O’Rourke RA, Buchsbaum HW. Choreoathetosis as a manifestation of thyrotoxicosis. Neurology 1971;21:55-57. 6. Pozzan GB, Battistella PA, Rigon F, et al. Hyperthyroid-induced chorea in an adolescent girl. Brain Dev 1992;14:126-127. 7. Isaacs JD, Rakshi J, Baker R,Brooks DJ, Warrens AN. Chorea associated with thyroxine replacement therapy. Mov Disord 2005; 20:1656-1670. 8. Bauer M, Heinz A, Whybrow PC. Thyroid hormones, serotonin and mood: of synergy and significance in the adult brain. Mol Psychiatry 2002;7:140-156. 9. Smith JW, Evans AT, Costall B, Smythe JW. Thyroid hormones, brain function and cognition: a brief review. Neurosci Biobehav Rev 2002;26:45-60. 10. Spano D, Branchi I, Rosica A, et al. Rhes is involved in striatal function. Mol Cell Biol 2004;24:5788-5796. 11. Lin J, Handschin C, Spiegelman BM. metabolic control through the PGC-1 family of transcription coactivators. Cell Metab 2005; 1:361-370. 12. Bhatia KP, Marsden CD. The behavioral and motor consequences of focal lesions of the basal ganglia in man. Brain 1994;117:859876. 13. Gonzalez-Alegre PG, Ammache Z, Davis PH, Rodnitzky RL. Moyamoya-induced paroxysmal dyskinesia. Mov Disord 2003;18: 1051-1056. 14. Hong YH, Ahn TB, Oh CW, et al. Hemichorea as an initial manifestation of moyamoya disease: reversible striatal hypoperfusion demonstrated on single photon emission computed tomography. Mov Disord 2002;17:1380-1383. 15. Nakamura K, Yanaka K, Ihara S, Nose T. Multiple intracranial arterial stenoses around the circle of Willis in association with Graves’ disease: report of two cases. Neurosurgery 2003;53:12101215.
منابع مشابه
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملCase Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye...
متن کاملClapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report
BACKGROUND Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. However, Rett syndrome hasn't been recognized by clinical doctors at the early stage. So we need to find some special characters. CAS...
متن کاملAripiprazole Selectively Reduces Motor Tics in a Young Animal Model for Tourette’s Syndrome and Comorbid Attention Deficit and Hyperactivity Disorder
Tourette's syndrome (TS) is a neurodevelopmental disorder characterized primarily by motor and vocal tics. Comorbidities such as attention deficit and hyperactivity disorder (ADHD) are observed in over 50% of TS patients. We applied aripiprazole in a juvenile rat model that displays motor tics and hyperactivity. We additionally assessed the amount of ultrasonic vocalizations (USVs) as an indica...
متن کاملThe role of stereotypies in overselectivity process in Rett syndrome.
Ten Rett syndrome (RS) girls and 10 control girls executed an attentional task in which a complex stimulus was shown followed by individual stimuli presented with distractors. Participants had to discriminate previously presented stimuli from distractors. RS girls carried out the task both in a condition with the containment of stereotypies and in a no-containment condition. Overselectivity occ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Movement disorders : official journal of the Movement Disorder Society
دوره 23 4 شماره
صفحات -
تاریخ انتشار 2008