Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Early-onset ataxia with oculomotor apraxia and hypoalbuminemia is an autosomal recessive cerebellar ataxia characterized by oculomotor apraxia, peripheral neuropathy, and hypoalbuminemia. Mutations in aprataxin gene located at chromosome 9q13 have been identified recently in Japanese and European patients. This study reports two cases of siblings with early-onset ataxia with oculomotor apraxia and hypoalbuminemia, which manifested early onset before 2 years of age with relatively rapid progression and severe dystonia. Both of the siblings were compound heterozygotes with aprataxin gene mutations, 689 insT and G692A, in exon 5 that encodes the histidine triad domain of the aprataxin protein. The novel missense mutation, G692A, was not present in 40 unrelated and unaffected individuals.
 ...
PMID:Early-onset ataxia with oculomotor apraxia with a novel APTX mutation. 1587 20

We here report a 45-year-old man with left arm focal dystonia induced by golf. He was a swimming instructor. From 35 years of age, he swung a golf club for 4 hours everyday. At 37 years of age, he noted difficulties in moving left arm when swinging, and developed involuntary movement of left arm toward his back thereafter. His involuntary movement was exacerbated even in several years after stopping both golf and swimming. Neurologically, simultaneous contraction was observed in left triceps and biceps muscles and his left arm dropped when raising arm to front. A 'sensory trick' was also observed. Thus, he was diagnosed as having a rare focal dystonia, and its clinical characteristics and course were basically different from those of 'yips', a focal dystonia that is characterized by anxiety and distal dominant dystonia presenting only on golf. Magnetic resonance imaging (MRI), FDG-positron emission CT (FDG-PET), C11-Raclopride PET and 99mTc-single photon emission CT (SPECT) revealed no abnormality in cerebral cortex and basal ganglias. However, motor evoked potentials (MEPs) were not evoked bilaterally when magnetic stimulation was applied on primary motor cortex. On functional MRI (fMRI), 40 seconds raising left arm task-induced activation in the right primary motor, supplementary motor, and premotor areas was apparently decreased, while left motor areas, the normal side, were reasonably activated. Motor-associated areas are generally overactivated by task in focal dystonia patients whereas excitability in primary motor area is decreased in idiopathic generalized dystonia. Therefore, dystonia of the present case appears to be similar to focal dystonia clinically but may partly have a mechanism similar to idiopathic generalized dystonia as shown in the fMRI studies.
 ...
PMID:[A patient with focal dystonia induced by golf and presenting a decrease in activity of cerebral motor cortex on task]. 1591 99

The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation.
 ...
PMID:Stiff child syndrome with mutation of DYT1 gene. 1668 92

Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (DeltaGAG) deletion, underlies dominantly inherited cases of early-onset torsion dystonia. Others, including a single nucleotide polymorphism that replaces aspartic acid (D) at residue 216 with histidine (H) in 12% of normal alleles and two other rare deletions, have not been clearly associated with disease. To gain insight into how these sequence variations affect torsinA, we used the structure of the related protein ClpB to provide a model of torsinA's AAA+ domain. Motifs important for ATP hydrolysis-sensor 1 and sensor 2-were identified, mutagenized and used to validate predictions of this model. Inspection revealed that the DeltaGAG deletion associated with dystonia removes one residue from an alpha-helix in the C-terminal portion of the AAA+ domain. The resulting distortion in torsinA structure may underlie this mutant's known tendency to produce ER-derived inclusions as well as its proposed loss of function. The D/H polymorphism at residue 216 falls in the N-terminal portion of the AAA+ domain near the sensor 1 motif. Surprisingly, cells expressing torsinA with the polymorphic histidine developed inclusions similar to those associated with DeltaGAG-torsinA, indicating that this change may also affect torsinA structure. Introducing H216 into DeltaGAG-torsinA reduced its tendency to form inclusions, suggesting that the two changes offset each other. Our findings point to a structural basis for the defects associated with the disease-linked DeltaGAG deletion in torsinA. They also suggest possible connections between the allelic polymorphism at residue 216 and the penetrance of DYT1 dystonia, as well as a possible role for this polymorphism in related disease states.
 ...
PMID:Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. 1653 70

To examine the effects of botulinum toxin injection application for the treatment of upper airway obstruction due to hyperactive lateral pterygoid muscle contraction, we applied botulinum toxin injection. A 20 year-old male patient had involuntary mouth opening after a diabetic coma. His mouth opened excessively (84 mm) particularly when he was in a nervous or stressed condition. This resulted in a bilateral temporomandibular dislocation and, consequently, upper airway collapse. The differential diagnosis of jaw-opening oromandibular dystonia was made. Botulinum toxin type A was bilaterally injected into the lateral pterygoid muscle. The excessive mouth opening was reduced, and the patient showed no temporomandibular joint (TMJ) dislocation or experienced any further airway collapse after the injections. We successfully applied botulinum toxin to a patient with upper airway obstruction and TMJ dislocation relative to jaw-opening dystonia.
 ...
PMID:Botulinum toxin treatment for upper airway collapse resulting from temporomandibular joint dislocation due to jaw-opening dystonia. 1693 64

We herein report a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts (MLC) who developed late-onset neuropsychological symptoms. He demonstrated characteristic clinical features of MLC during childhood, such as slowly progressive megalencepaly, motor impairment with ataxia and spasticity, mild mental retardation, and well-controlled epilepsy. Thereafter, he showed specific neuropsychological symptoms, such as motor and vocal tics, compulsive behavior, perseveration, acquired stuttering, and dystonia since the age of 12. His performance abilities had been unchanged but his verbal abilities had degraded during the past 14 years. Higher cortical dysfunction tests revealed a frontal lobe dysfunction. On repeated brain MRI, a leukoencephalopathy with subcortical cysts remained stationary from infancy. On single photon emission computed tomography (SPECT), a hypoperfusion in the frontal lobe was detected at the age of 3.5 and 17, but the severity of hypoperfusion was also unchanged, respectively. Our results indicate that the frontal lobe dysfunction may be relevant to the late-onset neuropsychological symptoms with MLC.
 ...
PMID:Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. 1723 7

Progressive myoclonic ataxia, also referred to as Ramsay Hunt syndrome, is characterized by a combination of myoclonus and cerebellar ataxia, infrequently accompanied by tonic-clonic seizures. Its differential diagnosis overlaps with progressive myoclonic epilepsy, a syndrome with myoclonus, tonic-clonic seizures, progressive ataxia and dementia. In patients with progressive myoclonic epilepsy, specific diseases can frequently be recognized, but the diagnostic yield in progressive myoclonic ataxia is much lower. We describe a patient who presented with multifocal myoclonus in his thirties and who later developed cerebellar ataxia and focal dystonia. His father was similarly affected. Genetic studies revealed a mutation in the protein kinase C gamma (PRKCG) gene, known to cause spinocerebellar ataxia type 14 (SCA-14). This case illustrates that both myoclonus and dystonia are part of the clinical spectrum in SCA-14 and that myoclonus can even be the presenting symptom. We suggest that SCA-14 should be considered in the differential diagnosis of progressive myoclonic ataxia.
 ...
PMID:PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. 1734 73

Generalized dystonia is a disabling disorder that can severely affect quality of life. Pharmacological treatment is unsatisfactory, and surgical therapy has been the focus for symptom improvement. We present the first case report of a patient with disabling generalized dystonia treated with a thalamotomy and deep brain stimulation of the thalamus and globus pallidus (DBS-Vim, DBS-GPi). His tremor and dystonic symptoms have dramatically improved through combining these surgical interventions.
 ...
PMID:Thalamotomy, DBS-Vim, and DBS-GPi for generalized dystonia: a case report. 1737 6

We herein report the findings of a 2-year-6-month-old boy, who had been experiencing monocular pendular nystagmus, strabismus, and episodic eye deviation nystagmus, intractable dystonia and apneic attack which all began when he was 2 days of age. He underwent a complete blood count test, blood chemistry test, analysis of amino acids in the blood and urine, analysis of pyruvate/lactate in blood and cerebrospinal fluid, head computed tomography and magnetic resonance imaging and no abnormal results were identified. His attacks were resistant to multiple antiepileptic and dopaminergic drugs. He showed transient left and/or right hemiplegia after nystagmus, dystonia and/or apneic attacks at 8-months of age with retardation in intelligence. We diagnosed him to have alternating hemiplegia of childhood (AHC). We were unsure how to deal with his attacks after he was discharged from the hospital, however, resuscitation with the ambu bag by his mother at home and the intravenous infusion of diazepam or thiamylal at the hospital together was proven to be an effective method for treating his severe apneic attacks. The effect of diazepam and amantadine on these attacks was transient, however, the administration of flunarizine with amantadine resulted in an improvement in his attacks. We therefore consider the administration of flunarizine to be essential for the effective treatment of AHC in this case.
 ...
PMID:[A boy with nystagmus, refractory dystonia and apneic attack due to alternating hemiplegia of childhood]. 1763 86

Topographical disorientation is marked by difficulty finding one's way in familiar or new environments. The present case study reports findings from a 30-year-old male with encephalomalasia of the left parahippocampal region secondary to brain trauma with subsequent difficulty in learning of new routes. His navigation in premorbidly known (familiar) surroundings was intact. Magnetic resonance images revealed left parahippocampal and bilateral occipital encephalomalasia. Neuropsychological screening showed impairment in structuring a representation of the spatial relationships among landmarks with relatively preserved ability to learn visual and verbal information of these landmarks. Decreased visual perception and inappropriate visual inputs due to cervical dystonia and right homonymous hemianopsia also appear to play a role in his disability. The current knowledge about the neuronal systems involved in visual cognition and topographical orientation also are addressed in this report.
 ...
PMID:Route learning impairment associated with encephalomalasia secondary to traumatic brain injury: a case report. 1856 8


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>