ライフサイエンスコーパス: primary dystonia

1 cues TorsinADeltaE could serve as a cure for primary dystonia.

2 lates of tremor in patients with adult-onset primary dystonia.

3 common feature of patients with adult-onset primary dystonia.

4 patients with different types of adult-onset primary dystonia.

5 th what has been described in other forms of primary dystonia.

6 he most prevalent form of dystonia syndrome, primary dystonia.

7 ) are the only genes identified thus far for primary dystonia.

8 family member who had early-onset, non-focal primary dystonia.

9 most cases of early onset autosomal dominant primary dystonia.

10 n-genetically characterized individuals with primary dystonia.

11 dysfunction that occurs in PD as well as in primary dystonia.

12 rovide insights into the etiopathogenesis of primary dystonia.

13 a unique entity that stands apart from other primary dystonias.

14 p scientists understand the etiology of DYT1 primary dystonia, a movement disorder caused by a single

15 The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamat

16 ere recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Ami

17 of cellular activities) ATPase implicated in primary dystonia, an autosomal-dominant movement disorde

18 tory circuits that differ from those seen in primary dystonia and epilepsy, and which may provide clu

19 mon movement disorders: Parkinson's disease, primary dystonia and essential tremor.

20 nctional magnetic resonance imaging to study primary dystonia and healthy volunteer subjects while th

21 ts into the pathophysiological mechanisms of primary dystonias and their treatment using pallidal dee

22 The vast majority of patients with primary dystonia are adults with focal or segmental dist

23 Pathophysiological deficits in primary dystonia are well characterized and include redu

24 is mutated in DYT1 dystonia, a rare type of primary dystonia, binds to and promotes the degradation

25 of primary motor cortex hyperexcitability in primary dystonia, but several functional imaging studies

26 DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (Del

27 ear, four new genes have been shown to cause primary dystonia (CIZ1, ANO3, TUBB4A and GNAL), PRRT2 ha

28 ponses to natural versus unnatural motion in primary dystonia differ from normal, we used functional

29 in a broad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with s

30 Like other genetic primary dystonias, DYT6 patients have no characteristic

31 pathophysiology of writer's cramp and other primary dystonias, endogenous dopamine release during ta

32 After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-ex

33 Primary dystonia has been associated with an underlying

34 g of 760 subjects with familial and sporadic primary dystonia identified three Caucasian pedigrees wi

35 rlie a substantial proportion of early-onset primary dystonia in non-DYT1 families.

36 ndicates an important non-motor component to primary dystonia, including abnormalities in sensory and

37 the first evidence that causative genes for primary dystonia intersect in a common pathway and raise

38 Primary dystonia is a disease characterized by involunta

39 Primary dystonia is a movement disorder characterized by

40 The classical familial form of primary dystonia is caused by the DYT1 (DeltaE) mutation

41 Although primary dystonia is defined by its characteristic motor

42 d phenomenology in patients with adult-onset primary dystonia is limited.

43 Primary dystonia is thought to be a disorder of the basa

44 e lacking clear degenerative neuropathology, primary dystonia is thought to involve microstructural a

45 Primary dystonia is usually of adult onset, can be famil

46 The neuropathology of the primary dystonias is not well understood.

47 dystonia, the most common inherited form of primary dystonia, is a neurodevelopmental disease caused

48 YT1 carriers as well as in carriers of other primary dystonia mutations such as DYT6.

49 were compared with the data of patients with primary dystonia obtained previously.

50 t period between patients with secondary and primary dystonia or healthy controls.

51 We studied a retrospective cohort of 21 DYT1 primary dystonia patients treated for at least 1 year wi

52 nto various aetiological categories, such as primary, dystonia-plus, heredodegenerative, and secondar

53 Five new genes for primary dystonia (PRRT2, CIZ1, ANO3, TUBB4A and GNAL) ha

54 In contrast, patients with primary dystonia showed increased cortical plasticity an

55 In 15 patients with primary dystonia (six cervical and nine generalized dyst

56 Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting mo

57 Our results establish a genetic model of primary dystonia that is overtly symptomatic, and link t

58 he genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and her

59 g studies have related the motor features of primary dystonia to connectivity changes in cerebello-th

60 es most cases of childhood-onset generalized primary dystonia, was cloned in 1997, and use of cell mo

61 ons with significant connectivity changes in primary dystonia were situated in proximity to normal mo

62 nsecutive patients with medically refractory primary dystonia who underwent pallidal DBS implants.

63 increasingly recognised, most patients have primary dystonia without a specific cause.