Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of the present study was to elucidate the influences of nicotine on a patient with spinocerebellar degeneration whose symptoms temporarily exacerbated by cigarette smoking. We have examined the influences of nicotine gum on cerebellar ataxia. Limb ataxia, dysarthria and truncal titubation were maximally aggravated 15 min after nicotine gum chewing, which paralleled blood nicotine level. Specific increased accumulation of 123I-IMP was observed in the cerebellum 15 min after nicotine gum load by 123I-IMP-SPECT. On the other hand, in a control with spinocerebellar degeneration whose symptoms not changed by nicotine gum load, the specific finding on 123I-IMP-SPECT was not detected. These findings suggested a direct effect of nicotine on the cerebellum.
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PMID:[The effects of nicotine on a patient with spinocerebellar degeneration whose symptoms temporarily exacerbated by cigarette smoking]. 825 32

A 56-year-old man with vertebrobasilar insufficiency and associated findings including quadriparesis, dysarthria, cerebellar ataxia, nystagmus, and somnolence underwent left occipital artery (OA) to anterior inferior cerebellar artery (AICA) anastomosis with interposition of a superficial temporal artery (STA) graft. This procedure was chosen because cerebral angiograms demonstrated occlusion of the right vertebral artery (V3) and severe stenosis of the V4 segment of the left vertebral artery, with perfusion of the territory of the left posterior inferior cerebellar artery via the ipsilateral AICA, and because dissection of the OA is a relatively difficult and time-consuming procedure. Dissection of the STA, on the other hand, is much easier. Preoperative measurements of local cerebral blood flow in the vertebrobasilar circulation before and after intravenous administration of acetazolamide (500 mg) were obtained, and demonstrated low flow and hemodynamic compromise in the posterior circulation. The patient's hemodynamic and neurological status improved following surgery. In this report, we present a new and simplified method of OA-AICA anastomosis with interposition of STA graft.
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PMID:Anastomosis of occipital artery to anterior inferior cerebellar artery with interposition of superficial temporal artery. Case report. 836 56

We reported a 33-year-old man with Lennox syndrome of 26 years' duration associated with unusual symptom complexes such as severe cerebellar ataxia and dysarthria, and peripheral neuropathy. His convulsive disorder was very intractable despite multiple anticonvulsants including phenytoin (PHT), phenobarbital (PB), primidone (PRM), valproate and so on. At the age of 25 he was no longer able to walk without help. PHT blood levels were kept almost within the therapeutic range, while PB blood levels tended to be greater than the therapeutic range. Needle EMG study revealed denervation pattern. Motor conduction velocity of the peroneal nerve was 25.2 m/s and sensory conduction velocity of the sural nerve could not be elicited. Brain CT and MRI showed the marked cerebellar atrophy predominant in the vermis. To our knowledge there were no previously reported cases of Lennox syndrome associated with such cerebellar dysfunctions and peripheral neuropathy. From the clinical course and laboratory findings, metabolic disorders and degenerative diseases were ruled out. We consider his cerebellar symptoms and peripheral neuropathy could be attributable to the long-term use of multiple anticonvulsants, i.e. PHT in combination with PB and PRM. These symptoms seem to be irreversible, because our patient's condition did not change after PHT and PB dose reduction, and discontinuation of PRM.
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PMID:[Lennox syndrome associated with severe cerebellar dysfunction and peripheral neuropathy]. 839 88

We report four sporadic cases of cerebellar ataxia associated with hypogonadism. All patients were female. The neurological symptoms appeared in the first three decades. Apart from ataxia, the most frequent features were nystagmus, dysarthria, mental impairment, brisk tendon reflexes, skeletal deformities, peripheral neuropathy, and tremor. Neuroimaging studies showed constant cerebellar atrophy, in some instances associated with involvement of either grey or white cerebral matter. Neurophysiological studies demonstrated an axonal neuropathy. Endocrine evaluation showed heterogeneity of the hypogonadism, which was hypogonadotrophic in one patient and hypergonadotrophic in the other three. One patient had partial deficiency of muscle cytochrome c oxidase. The syndrome appears to be a heterogeneous multisystem disorder and in some cases a mitochondrial metabolism deficiency could be suspected.
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PMID:Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia). 845 11

Seven patients with hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA) are presented. This is the first comprehensive evaluation of what is a unique disorder, half way between the cerebellar atrophies and the hereditary motor and sensory neuropathies. In addition to cerebellar ataxia and peripheral neuropathy, the most frequent features in HMSNCA were nystagmus, dysarthria, mental impairment and tremor. Pyramidal signs or autonomic nerve dysfunction was never revealed. Scoliosis or kyphoscoliosis was not noted. Progression of the disorder was very slow, most of the patients being ambulatory more than 10 years after the onset. Most of the patients had hypoalbuminemia. Half-life periods of serum albumin were normal and decreased synthesis of albumin in the liver was suspected. An autosomal recessive inheritance was strongly suggested, because of healthy consanguineous parents and affected siblings in these families. The segregation ratio was 0.32 +/- 0.10 and was close to the expected ratio of 0.25 in an autosomal recessive inheritance.
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PMID:Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease. 858 17

At least 5 different genes of autosomal dominant spinocerebellar ataxias (SCA) were revealed recently. Their discovery permitted to elaborate the most perfect classification of this heterogeneous group of diseases. In two forms of ataxias (SCA1 and SCA3) the mutations consist in the expansion of CAG-trinucleotides repetitions. The Russian population of patients with dominant SCA (13 families) was examined for the first time in terms of the evaluation of mutant gene carriers of SCA1 and SCA3. SCA1 was diagnosed in 5 families on the molecular level. The cerebellar ataxia, dysarthria as well as pyramidal symptoms comprised the basis of SCA1 clinical pattern. There were no SCA3 cases at DNA-testing. The perspectives of DNA-diagnosis of inherited ataxias were considered.
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PMID:[The molecular genetic approach to the study of dominant spinocerebellar ataxias]. 867 16

A 47-year-old man was admitted for evaluation of unsteady gait, postural instability, and dysarthria. On admission, neurological examinations revealed cerebellar ataxia, extrapyramidal signs including parkinsonism and positive Trousseau's sign. Laboratory findings revealed severe hypocalcemia and hyperphosphatemia, and serum intact parathyroid hormone was not detectable. Brain computed tomography revealed severe calcification of basal ganglia and dentate nuclei. He was diagnosed as idiopathic hypoparathyroidism; treatment with 1 alpha (OH) vitamin D3 brought marked improvement of neurological manifestations. We report a rare case of idiopathic hypoparathyroidism presenting with extrapyramidal and cerebellar dysfunction with a review of literature.
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PMID:A rare case of idiopathic hypoparathyroidism with varied neurological manifestations. 868 Jan 1

We examined a large family in which an X-linked recessive congenital ataxia manifested in 7 males from three generations. The affected boys first exhibited a marked delay of early developmental motor milestones. A neurological syndrome became evident by 5 to 7 years of age and included cerebellar ataxia, dysarthria, and external ophthalmoplegia; there were no symptoms of mental retardation, spastic paraparesis, or sensory loss. Neuroimaging studies revealed hypoplasia of cerebellar hemispheres and vermis. The disease showed no progression beyond early childhood. The unique heredity and clinical features clearly distinguish this new entity from a variety of previously described familial ataxias. Pairwise linkage analysis and haplotype reconstruction allowed us to map the gene responsible for this disorder to a 38-cM interval on chromosome Xp11.21-q24 flanked by the loci DXS991 and DXS1001. Upon multipoint linkage analysis, the disease gene was determined to be located most likely in the proximal part of chromosome Xq, with the maximal lod score of 4.66 at the locus DXS1059 (Xq23). This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome.
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PMID:X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. 868 95

A 2-year-old boy, with the primary difficulties of nausea and vomiting, developed a staggering gait and dysarthria 10 days after varicella vaccination. Magnetic resonance imaging demonstrated multiple areas of high signal intensity in the white matter of the cerebellum, predominantly in the parieto-occipital white matter and both globus pallidi. He did not present any signs of myelitis or encephalitis and thus his cerebellar dysfunction was diagnosed as acute cerebellar ataxia, which is, generally speaking, not an etiologic entity but a clinical syndrome. Magnetic resonance imaging may reveal a variety of abnormalities of the central nervous system in acute cerebellar ataxia.
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PMID:Acute cerebellar ataxia with abnormal MRI lesions after varicella vaccination. 877 Nov 72

Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant gene. We investigated 25 patients from 15 Russian ADCA families for SCA1 mutation and found an expanded CAG repeat in 5 families. Mutant chromosomes contained 41-51 CAG repeats (mean 46.1, SD 3.1), and normal chromosomes displayed 21-27 repeat units (mean 24.7, SD 1.3). Progressive cerebellar ataxia in our series of SCA1 patients was very commonly associated with dysarthria (in all cases) and pyramidal signs (in 10 of 11 cases). In three patients from one family we found optic atrophy, which has never been described before in genetically proven cases of SCA1. We observed no specific clinical features distinguishing SCA1 from non-SCA1 patients. In contrast to the high frequency of SCA1 in our series, we found no patients with Machado-Joseph disease, another form of ADCA caused by expanded CAG repeat.
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PMID:Spinocerebellar ataxia type 1 in Russia. 883 39


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