1/21. Phenotypic variability of the DYT1 mutation in German dystonia patients.Primary dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained involuntary muscle contractions causing repetitive movements and/or abnormal postures. Recently, the gene locus (DYT1) and mutation responsible for a substantial number of cases suffering from early-onset primary dystonia was described. Here we report 2 German families and 1 sporadic patient with early-onset dystonia due to the DYT1 mutation in order to illustrate the variability of clinical manifestation within this molecularly defined entity. We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
2/21. Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration.Early onset torsion dystonia (DYT1) is a dominantly inherited dystonia caused by a deletion of three bases, GAG, coding glutamic acid, in chromosome 9q34. The protein coded by this gene was named as torsin A. DYT1 is common among the Ashkenazi Jewish population, but has been thought to be rare among Japanese. Among the idiopathic torsion dystonias being followed in this clinic, we found five families with DYT1 by gene analysis. This is the first report of genetically proven Japanese DYT1.The clinical features of five proband cases were divided into two types. One type is postural dystonia with marked trunkal torsion, and the other is action dystonia associated with violent dyskinetic movements. The affected family members in the upper generations presented with focal or segmental dystonia; it was postural dystonia of the legs in the former, and writer's cramp or tremor of the arms in the latter families. There was an asymptomatic carrier in the upper generation. Anticipation in the age of onset and severity of the disease was observed in all families. Medical treatment, including anticholinergics and levodopa, did not show apparent effects, while stereotactic thalamotomy to the nucleus ventralis lateralis (VL) or ventralis intermedius (Vim), with or without posterior ventral pallidotomy, were effective with action dystonia, but not postural dystonia. This study suggests the existence of at least two phenotypes in DYT1, in which different pathways of the basal ganglia are involved.- - - - - - - - - - ranking = 0.5keywords = movement (Clic here for more details about this article) |
3/21. Oral rehabilitation using osseointegrated implants in a patient with idiopathic torsion dystonia.Idiopathic torsion dystonia is a motor syndrome characterized by dystonic movements and postures in the absence of other neurologic deficits. The condition involves prolonged spasms of muscle contraction that distort the body into typical postures. Such distortions involving the head and the neck make conventional denture use in edentulous patients very difficult. The present paper reports on a patient with idiopathic torsion dystonia who was treated with a mandibular overdenture supported by endosteal implants, which enabled the establishment of a stable occlusion and improved the dynamics of the masticatory muscles for chewing.- - - - - - - - - - ranking = 0.5keywords = movement (Clic here for more details about this article) |
4/21. DYT1 mutation in primary torsion dystonia in a Serbian population.Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD. We analysed the DYT1 mutation in 50 patients from a Serbian population, selected according to the proposed guidelines for diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b) 12 patients with the disease onset /- 26 years, but with at least one affected family member with early-onset dystonia. Only three apparently sporadic patients among the 50 individuals tested were positive for the GAG deletion in the DYT1 gene: one with typical, generalized, one with long-lasting, non-progressive segmental, and one with multifocal dystonia. Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance.- - - - - - - - - - ranking = 0.5keywords = movement (Clic here for more details about this article) |
5/21. deep brain stimulation of the globus pallidus internus (GPI) for torsion dystonia--a report of two cases.Generalized dystonia is known as a type of movement disorder in which pharmacotherapeutic options are very limited. deep brain stimulation (DBS) is well established for Parkinson's disease (PD) and tremor dominant movement disorders. We report on two cases of generalized dystonia which were successfully treated by chronic high frequency stimulation in the globus pallidus internus (GPI). Two 26 and 27 years old males suffered from severe torsion dystonia and multisegmental dystonia of the lower limbs. Case 1 is a familiar type of dystonia (DYT1 positive). The onset of symptoms in both cases was at age 7. The complaints were initially treated with orally administered benzodiazepines, anticholinergic drugs, later by baclofen and L-DOPA. However there was no response. Case 2 was a patient with a history of left side dominated dystonia since the age of 8. It was first diagnosed as a psychogenic movement disorder. Prior to surgery he was treated with L-DOPA, anticholinergics, baclofen without any effect. There was only a limited effect on high doses of diazepam. The patient is DYT1 negative. The target point was on both sides the GPI. Intraoperative computerized tomography (CT) and ventriculography (VG) were used for target setting. Furthermore microrecordings were helpful to ensure the exact electrode position. Surgery was performed under analgosedation. Two weeks after surgery we first observed a relief of symptoms in both cases. A significant reduction in the Burke-Fahn-Marsden-dystonia Movement Rating Scale was observed at the 6 month follow-up (case 1: 95%, case 2: 80%). In case 1 a slight dystonic movement of the left ankle was the only remaining symptom under stimulation. The medication was continuously reduced. At the 24 month follow-up the effect of stimulation remained unchanged. However high stimulation parameters are required to maintain an optimal effect (mean 3.5 V, 400 microseconds, 145 Hz).- - - - - - - - - - ranking = 2keywords = movement (Clic here for more details about this article) |
6/21. Adverse effects of dopamine potentiation by long-term treatment with selegiline.A patient with triosephosphate isomerase (TPI) deficiency exhibited worsening of abnormal involuntary movements of the dystonic type and developed psychiatric symptoms while on selegiline. When selegiline was stopped after 9 years of treatment, abnormal involuntary movements improved to pretreatment level and psychiatric behaviour returned to normal. monoamine oxidase-B platelet activity was low in this patient.- - - - - - - - - - ranking = 71.903509849329keywords = involuntary movement, movement (Clic here for more details about this article) |
7/21. Phenotypic characterization of DYT13 primary torsion dystonia.We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals spanning three consecutive generations and male-to-male transmission. Age at onset ranged from 5 to 43 years. Onset occurred either in the craniocervical region or in upper limbs. Progression was mild, and the disease course was benign in most affected individuals; generalization occurred only in 2 cases. We did not find anticipation of age at onset or of disease severity through generations. Most subjects presented with jerky, myoclonic-like dystonic movements of the neck or shoulders. DYT13-PTD is an autosomal dominant disease, with incomplete penetrance (58%). Clinical presentation and age at onset were more variable than in DYT1-PTD, and the neck was involved in most of those affected. Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD.- - - - - - - - - - ranking = 0.5keywords = movement (Clic here for more details about this article) |
8/21. Preimplantation genetic diagnosis for early-onset torsion dystonia.Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized by sustained twisting contractures that begin in childhood, which is caused in majority of cases by a 3-bp deletion of the DYT1 gene on chromosome 9q34 at the heterozygote state. As there is no effective treatment of this disease, preimplantation genetic diagnosis (PGD) may be a useful option for at-risk couples to establish an DYT1 mutation-free pregnancy. PGD was performed for two obligate carriers of the DYT1 3-bp deletion, using blastomere testing to preselect the mutation-free embryos, based on mutation analysis with simultaneous testing of the three closely linked markers, D9S62, D9S63 and ASS. Of 19 tested blastomeres in three cycles, 17 had conclusive information about the mutation and linked markers, of which eight were predicted to be free of 3-bp deletion. Six of these embryos were transferred back to patients, two in each cycle, yielding singleton DYT1 3-bp deletion-free clinical pregnancies in two. One of these pregnancies was terminated due to severe anencephaly and the other resulted in birth of a mutation-free child. This is the first PGD for primary torsion dystonia, providing an alternative for those at-risk couples who cannot accept prenatal diagnosis and termination of pregnancy as an option for avoiding early onset torsion dystonia.- - - - - - - - - - ranking = 0.5keywords = movement (Clic here for more details about this article) |
9/21. carpal tunnel syndrome: a complication of idiopathic torsion dystonia.carpal tunnel syndrome (CTS) is usually an idiopathic disorder. Certain occupations that require frequent flexion movements of the hand at the wrist are recognized as precipitating the development of CTS. dystonia can cause similar excessive movements at the wrists. We report the clinical and electromyographic findings of two patients with idiopathic torsion dystonia (ITD), with frequent flexion postures of the wrists, in both of whom typical CTS developed in the more involved hand. It is concluded that nerve entrapment such as CTS has to be considered a possible complication in patients with ITD and other motor control disorders.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
10/21. Idiopathic dystonia and cervical spondylotic myelopathy.Cervical myelopathy developed in two patients with idiopathic torsion dystonia. There were marked spondylotic changes in both patients, probably attributable to the incessant dystonic movements of the neck. Previous cervical spine surgery may have exacerbated the myelopathy in one of the patients. Cervical myelopathy complicating idiopathic dystonia must be distinguished from other causes of neurological deterioration, since it may be improved by appropriate neurosurgical treatment.- - - - - - - - - - ranking = 0.5keywords = movement (Clic here for more details about this article) |
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