1.Adult-Onset Walking-Upstairs Dystonia.
Simona PORTARO ; Antonino NARO ; Alberto CACCIOLA ; Angela MARRA ; Angelo QUARTARONE ; Demetrio MILARDI ; Rocco Salvatore CALABRÒ
Journal of Clinical Neurology 2019;15(1):122-124
No abstract available.
Dystonia*
2.Call Center Operator's Dystonia
Journal of Movement Disorders 2019;12(1):57-59
No abstract available.
Dystonia
3.A Case of Ascending and Descending Stair-Specific Dystonia
Talia ARCERI ; Jeffrey RATLIFF
Journal of Movement Disorders 2019;12(2):130-131
No abstract available.
Dystonia
4.Task-Specific Oromandibular Dystonia in a Telemarketer
Journal of Movement Disorders 2019;12(2):125-127
No abstract available.
Dystonia
5.A Case of Dystonia Musculorum Deformans.
Ji Yong LEE ; Han Seon CHO ; Won Tsen KIM
Journal of the Korean Neurological Association 1988;6(2):268-271
No abstract available.
Dystonia Musculorum Deformans*
;
Dystonia*
6.Tremor in a Bassoonist: Tremor in Dystonia or Essential Tremor?.
Jung E PARK ; Vesper Fe Marie L RAMOS ; Mark HALLETT
Journal of Movement Disorders 2016;9(2):124-125
No abstract available.
Dystonia*
;
Essential Tremor*
;
Tremor*
7.A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia.
Han Soo YOO ; Hyunjoo LEE ; Seok Jong CHUNG ; Jin Sung LEE ; Sang Kyoon HONG ; Phil Hyu LEE ; Yun Joong KIM ; Young Ho SOHN ; Hae Won SHIN
Journal of Clinical Neurology 2018;14(4):596-597
No abstract available.
Basal Ganglia*
;
Dystonia*
;
Humans
8.Stereotaxic Surgery for Dystonia.
Chang Rak CHOI ; Myung Soo AHN
Journal of Korean Neurosurgical Society 1983;12(4):637-639
Our experienced is based on a series of 5 cases of dystonia who underwent stereotaxic thalamotomy. The immediate good results have been obtained by thalamotomy. We have been able to estimate secondary deterioration on long term results in patients examined 2-5 years postoperatively. Some deterioration is noted patients operated on for athetosis over the age of 20. A pallido-subthalamic lesion is efficient at the beginning of the disease course since it improves motor performance and thereby helps possiblities of intellectual acquirement. Bilateral lesions have done after improved. I.Q. Effects of this treatment specially on spasticity must be discussed among other types of surgery.
Athetosis
;
Dystonia*
;
Humans
;
Muscle Spasticity
9.Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation
Dallah YOO ; Han Joon KIM ; Jong Hee CHAE ; Sun Ha PAEK ; Beomseok JEON
Journal of Movement Disorders 2019;12(3):190-191
No abstract available.
Deep Brain Stimulation
;
Dystonia
;
Humans
10.Validation of a PCR-based test for the genetic diagnosis of Filipino patients with X-linked dystonia parkinsonism (Xdp)
Paul Matthew D. Pasco ; Toshitaka Kawarai ; Catherine Lynn T. Silao ; Daffodil M. Canson ; Lillian V. Lee ; Ryuji Kaji
Acta Medica Philippina 2015;49(1):1-4
BACKGROUND AND OBJECTIVE: X-linked dystonia parkinsonism (XDP, DYT3, MIM #314250) is a neurodegenerative movement disorder found endemically in the Philippines. An SVA retrotransposon insertion mutation has been described in patients with XDP, which requires Southern analysis for detection. However, this method is costly and time-consuming. Hence we developed a PCR-based method and validated it among our local population.
METHODS AND RESULTS: A total of 58 samples from 58 patients with a clinical diagnosis of XDP were collected. Other samples were from an obligate female carrier, two unaffected male relatives, and two patients with typical Parkinson’s disease. Primers designed to amplify the SVA retrotransposon found in the DYT3-TAF1 gene (NCBI Accession Number AB191243) were used. All patients were positive for the expected 3229-bp product after PCR amplification. The normal control showed a 599-bp product, while the female carrier showed both the 3229 and 599-bp product. Subsequent RFLP analysis using BamHI verified the presence of the SVA retrotransposon insertion mutation.
CONCLUSION: Our results show that large-scale PCR-based testing to screen for genetic diseases with a relatively high prevalence such as XDP is possible in our setting. When followed by RFLP analysis, this can provide genetic confirmation of the diagnosis of XDP and facilitate proper genetic counselling and therapy.
Dystonia 3, Torsion, X-Linked
Result Analysis
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