Paper Search Console

Home Search Page About Contact

Journal Title

Title of Journal: J Neurol

Search In Journal Title:

Abbravation: Journal of Neurology

Search In Journal Abbravation:

Publisher

Springer-Verlag

Search In Publisher:

DOI

10.1016/j.aorn.2008.01.002

Search In DOI:

ISSN

1432-1459

Search In ISSN:
Search In Title Of Papers:

Missense exchanges in the Emphasis Type="Italic"

Authors: Ulf Edener Ingo Kurth Annechristin Meiner Frank Hoffmann Christian A Hübner Veronica Bernard Gabriele GillessenKaesbach Christine Zühlke
Publish Date: 2009/06/17
Volume: 256, Issue: 11, Pages: 1856-1859
PDF Link

Abstract

The spinocerebellar ataxias SCAs with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum To date 28 different loci have been identified Nine SCAs are caused by repeat expansions for 14 only the chromosomal localisation is known Recently two frameshift mutations in the tau tubulin kinase 2 gene TTBK2 were reported to cause SCA11 To evaluate the frequency of mutations in the TTBK2 gene we performed molecular genetic analyses in 49 unrelated familial cases with ataxia Sequencing all coding exons revealed amongst others two novel missense exchanges at evolutionarily conserved amino acid positions Although being unique in 98 alleles of ataxia patients a disease causing effect can be excluded with high probability for both variations This result demonstrates the challenges in diagnostic testing for SCA11We thank all patients for supplying blood samples for scientific research and their clinicians for collecting them Part of this work was supported by the Deutsche Forschungsgemeinschaft DFG ZU 136/12 and by the German HeredoAtaxia Society DHAG

Keywords:

References

.
Search In Abstract Of Papers:
Other Papers In This Journal:
  1. Toothbrushing-induced seizures at onset of cryptogenic partial epilepsy: a case report
  2. Associated and predictive factors of depressive symptoms in patients with Parkinson’s disease
  3. Sensory loss, pains, motor deficit and axonal regeneration in length-dependent diabetic polyneuropathy
  4. Walter Rudolf Hess (1881–1973)
  5. Current concepts and future approaches to vestibular rehabilitation
  6. Clinical features associated with REM sleep behavior disorder symptoms in the early stages of Parkinson’s disease
  7. Vestibular animal models: contributions to understanding physiology and disease
  8. Primary leptomeningeal lymphoma of the cauda equina: a rare cause of radiculopathy
  9. DWI and FLAIR imaging in herpes simplex encephalitis: a comparative and topographical analysis
  10. Interferon beta in secondary progressive multiple sclerosis
  11. Tissue damage within normal appearing white matter in early multiple sclerosis: assessment by the ratio of T1- and T2-weighted MR image intensity
  12. Diaphragm of the internal carotid artery: a novel cause of pulsatile tinnitus
  13. Retinal nerve fiber layer thickness in subgroups of multiple sclerosis, measured by optical coherence tomography and scanning laser polarimetry
  14. Tolvaptan treatment of severe stroke-like symptoms and bilateral subcortical diffusion restriction due to syndrome of inappropriate secretion of ADH after polytrauma
  15. Tolvaptan treatment of severe stroke-like symptoms and bilateral subcortical diffusion restriction due to syndrome of inappropriate secretion of ADH after polytrauma
  16. Detailing intra-lesional venous lumen shrinking in multiple sclerosis investigated by sFLAIR MRI at 7-T
  17. Neurological complications of Behçet’s syndrome
  18. Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy’s disease)
  19. Meningitis–retention syndrome
  20. APOE genotypes in Greek multiple sclerosis patients: no effect on the MS Severity Score
  21. Early MRI findings in Creutzfeldt-Jakob disease
  22. Causes and characteristics of horizontal positional nystagmus
  23. The comparison of clonidine, arginine and both combined: a growth hormone stimulation test to differentiate multiple system atrophy from idiopathic Parkinson’s disease
  24. Mastication-induced vertigo and nystagmus
  25. Need for extensive diagnostic work-up for patients with lacunar stroke
  26. Low testosterone and myasthenia gravis in males: a national record-linkage study
  27. Plasma levels of nitric oxide and stroke outcome
  28. High field MR imaging and 1 H-MR spectroscopy in clinically isolated syndromes suggestive of multiple sclerosis
  29. Patient-reported adverse effects of high-dose intravenous methylprednisolone treatment: a prospective web-based multi-center study in multiple sclerosis patients with a relapse
  30. Cesare Vigna (1819–1892)
  31. Cesare Vigna (1819–1892)
  32. Aquaporin-4 seropositivity in a patient with coeliac disease but normal neurological examination and imaging
  33. Repetitive magnetic stimulation A novel therapeutic approach for myofascial pain syndrome
  34. Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
  35. Psychological interventions for migraine: a systematic review
  36. Respiratory dysfunction in Charcot–Marie–Tooth disease type 1A
  37. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation
  38. Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1
  39. Spinocerebellar ataxia type 17 in a patient from an Indian kindred
  40. ‘Switching off’ SUNCT by sudden head movement: a new symptom
  41. A clinical, radiological and outcome study of status epilepticus from India
  42. The impact of subthalamic deep brain stimulation on caregivers of Parkinson’s disease patients: an exploratory study
  43. Management of respiratory symptoms in ALS
  44. Lower serum ceruloplasmin levels correlate with younger age of onset in Parkinson’s disease
  45. Opsoclonus–myoclonus–ataxia syndrome and HIV seroconversion
  46. Vascular risk factors are associated with faster decline of Alzheimer disease: a longitudinal SPECT study
  47. Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci
  48. Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case
  49. Recovery from mild traumatic brain injury
  50. Modafinil for Parkinson’s disease fatigue
  51. Diagnosis and treatment of upper limb apraxia
  52. Familial aggregation in atypical Parkinson’s disease: a case control study in multiple system atrophy and progressive supranuclear palsy
  53. Thymectomy: role in the treatment of myasthenia gravis
  54. Long-term EMG recordings differentiate between parkinsonian and essential tremor
  55. Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies
  56. Cortical thinning in drug-naive Parkinson’s disease patients with depression
  57. Clinical phenotype and risk of levodopa-induced dyskinesia in Parkinson’s disease
  58. Frontal lobe function and behavioral changes in amyotrophic lateral sclerosis: a study from Southwest China
  59. Tic disorders: from pathophysiology to treatment
  60. Parkinson’s disease: news on tremor, subthalamic stimulation and impulse control disorders
  61. The use of multiattribute decision models in evaluating triptan treatment options in migraine
  62. Psychiatric disorders in idiopathic-isolated focal dystonia
  63. Domain-specific versus generalized cognitive screening in acute stroke
  64. Multiple sclerosis imaging: recent advances
  65. Hemifacial presentation of mitochondrial myopathy
  66. Teleneurology in stroke management: costs of service in different organizational models
  67. Small-fibre neuropathy related to bulbar and spinal-onset in patients with ALS
  68. Cerebral blood flow abnormalities in patients with neurally mediated syncope
  69. Specific electron transport chain abnormalities in amyotrophic lateral sclerosis
  70. Parkinson’s disease-related disorders in the impulsive-compulsive spectrum
  71. Accepting or declining non-invasive ventilation or gastrostomy in amyotrophic lateral sclerosis: patients’ perspectives
  72. Bladder dysfunction in subacute combined degeneration
  73. Predictors and prevalence of low bone mineral density in fully ambulatory persons with multiple sclerosis
  74. Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1
  75. Prior medical conditions and the risk of amyotrophic lateral sclerosis
  76. An epidemiological study of neuromyelitis optica in Cuba
  77. Brachial neuritis caused by varicella-zoster diagnosed by changes in brachial plexus on MRI
  78. Subthalamic nucleus stimulation in Parkinson’s disease
  79. Dopaminergic medication does not improve stepping responses following backward and forward balance perturbations in patients with Parkinson’s disease
  80. Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia
  81. A genome wide linkage disequilibrium screen in Parkinson’s disease
  82. Differential effect of Huntington's and Parkinson's diseases in programming motor sequences of varied lengths
  83. Accuracy of subjective and objective handwriting assessment for differentiating Parkinson’s disease from tremulous subjects without evidence of dopaminergic deficits (SWEDDs): an FP-CIT-validated study
  84. The utility of F wave chronodispersion in lumbosacral radiculopathy
  85. Accuracy of subjective and objective handwriting assessment for differentiating Parkinson’s disease from tremulous subjects without evidence of dopaminergic deficits (SWEDDs): an FP-CIT-validated study
  86. Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
  87. Progressive ascending myelopathy: atypical forms of multiple sclerosis or what else?
  88. Paroxysmal raised intracranial pressure associated with spinal meningeal cysts
  89. The relationship between impairment of voluntary movements and cognitive impairment in Huntington’s disease
  90. Long-term domain-specific improvement following poor grade aneurysmal subarachnoid hemorrhage
Search Result: