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)

Medial medullary infarctions (MMI) were reported in less than 40 patients with satisfactory clinicotopographic documentation. We studied seven patients with MRI-proven acute MMI seen in two neurologic departments over a 5-year period (1990-1994). MMI represented less than 1% of ischemic strokes in the posterior circulation. Five patients had an infarction above the pyramidal decussation. All patients had contralateral hemiparesis and lemniscal sensory loss, accompanied by ipsilateral lingual palsy (Dejerine's syndrome) in three. Two patients had infarction below the pyramidal decussation, with ipsilateral hemiparesis and lemniscal sensory loss. Accompanying symptoms and signs of MMI were vertigo and nausea (n = 5), mild ipsi- or contralateral decrease in pain sensation (n = 6), headache (n = 4), ipsilateral limb ataxia (n = 6), contralateral truncal lateropulsion (n = 5), mild ipsilateral ptosis (n = 4), nystagmus (n = 4), dysarthria (n = 3), and somnolence (n = 2). Presumed causes of MMI were stenosis, occlusion or dissection of the ipsilateral vertebral artery (n = 5), and cardioembolism (n = 1). Outcome at 3 months was favorable in five patients. In conclusion, the clinical features of MMI are more heterogeneous than commonly thought, whereas its etiology seems fairly constant (vertebral artery disease).
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PMID:Medial medullary stroke: report of seven patients and review of the literature. 971 65

Machado-Joseph disease, an autosomal dominant multisystem motor degeneration, has been described mainly in people of Portuguese descent. Our report documents the presence of Machado-Joseph disease in the Chinese population, based on the specific molecular marker of a CAG repeat array in the 3' end of the MJD gene. We screened 21 Chinese families with dominant spinocerebellar ataxia. The results showed that Machado-Joseph disease with CAG expansion accounted for 52% of families with autosomal dominant cerebellar ataxia in this series. The clinical characteristics, besides the well-documented cerebellar ataxia, dysarthria, nystagmus, corticospinal dysfunctions, a variable degree of facial muscle fasciculation, and proprioceptive loss, included loss of optokinetic nystagmus and autonomic nervous system dysfunction. The CAG repeat number in the MJD gene ranged from 14 to 39 among normal alleles, and from 63 to 81 among MJD alleles. There was a strong inverse correlation (gamma = -0.77) between number of CAG repeats and age at symptom onset, accounting for 60% of the variance of age at onset. A strong clinical anticipation of age at onset existed in successive generations. Mild instabilities of expanded CAG repeat numbers during meiotic transmission occurred, with no significant difference according to the gender of the transmitting parent. Finally, brain metabolism in Machado-Joseph disease, studied with positron emission tomography, was characterized by significant progressive regional hypometabolism in the occipital cortex, as well as the cerebellar hemispheres, vermis, and brainstem.
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PMID:Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. 912 1

Paraneoplastic cerebellar degeneration is a rare remote effect of ovarian and breast carcinoma especially, and is characterised clinically by rapidly evolving pancerebellar symptoms. A woman aged 83 developed progressive vertigo, cerebellar ataxia, nystagmus and dysarthria. The cerebrospinal fluid showed slight mononuclear pleocytosis, elevated total protein and IgG concentrations, and oligoclonal bands. A magnetic resonance investigation performed within the first month of symptoms was normal. A left pelvic mass was found, possibly a carcinoma of the colon or the left ovary. Cancer antigen 125 was elevated in the serum and antibodies against Purkinje cells (anti-Yo antibodies) were demonstrated in the serum and cerebrospinal fluid. These results suggested a carcinoma of the ovary as primary site of cancer. Autopsy revealed a left ovarian adenocarcinoma and marked loss of Purkinje cells in the cerebellum. The case illustrates that anti-Yo antibodies may serve as a marker not only for paraneoplastic cerebellar degeneration, but also for the nature of the neoplasm that caused it.
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PMID:[Paraneoplastic cerebellar degeneration. A case report]. 934 Aug 52

A 33-year-old woman presented with a 3-year history of progressive numbness in the hand, cerebellar ataxia, limb weakness, nystagmus, and dysarthria. T2-weighted MRI revealed abnormal foci of increased signal intensity mimicking demyelinating plaques in the periventricular white matter, and brain 18FDG-PET scan showed increased uptake in the pons. Biopsy from a tibial lesion showed aggregates of foamy histiocytes in the intertrabecular spaces replacing the bone marrow, characteristic of Erdheim-Chester disease. The patient was treated with craniospinal radiation. After 6 months, the clinical picture was stable and the MRI was unchanged.
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PMID:Cerebral manifestation of Erdheim-Chester disease: clinical and radiologic findings. 940 72

To evaluate the clinical characteristics of Machado-Joseph disease (MJD) with reference to CAG repeat length and disease duration, we analyzed neurologic findings in 108 patients from 84 families. The majority of MJD patients presented with an ataxic gait as the initial symptom. Dysarthria and nystagmus were observed from an early stage. Bulging eyes, muscle atrophy and bradykinesia developed later. Patients with a shorter CAG repeat length or later onset had more frequent involvement of proprioceptive sensory deficit. Incidence of abnormal reflexes, tones, and proprioceptive sensation was not associated with disease duration, but with CAG repeat length. Based on these results, we propose a new clinical classification: type A (juvenile type), with hyperreflexia and dystonia, but without a proprioceptive sensory deficit; type C (adult type), with hyporeflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.
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PMID:CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. 941 38

Using a molecular diagnostic approach, we investigated 101 kindreds with autosomal dominant cerebellar ataxias (ADCAs) from the central Honshu island of Japan, including spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2), Machado-Joseph disease (MJD), dentatorubral and pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 6 (SCA6). In our unselected series, MJD was the most common type of ADCA, accounting for 33.7% followed by DRPLA (19.8%), SCA2 (5.9%) and SCA6 (5.9%). No SCA1 mutations were identified. We analysed the clinical features of six molecular confirmed SCA6 kindreds: in each family, there was an expanded allele in the alpha1A-voltage dependent calcium channel comprising between 23 and 25 CAG repeats. The mean age at onset of symptoms was 43+/-13 years. The clinical features consisted predominantly of cerebellar ataxia, dysarthria and horizontal nystagmus, which was generally consistent with ADCA type 3. However several new clinical features were found in some patients: dramatic anticipation, rapid disease progression, severe ataxia associated with action tremor or action myoclonus, and very early onset, which are not described as the classical features of ADCA type 3.
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PMID:Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. 955 Mar 56

Hearing impairment is a rare but characteristic symptom of vertebrobasilar occlusive disease. Two patients with anterior inferior cerebellar artery (AICA) infarction and hearing loss as presenting complaint, are described. In patient 1 progressive bilateral AICA infarction was caused by occlusion of the basilar artery, verified by transcranial Doppler sonography. Initial dizziness and bilateral hearing loss were followed by ataxia, dysarthria, dysphagia and right facial sensory impairment. Hearing loss improved during the second week, parallel to a temporary partial recanalisation of the basilar artery, but the patient subsequently developed further progressive brain stem symptoms and died. A right-sided AICA-infarction was diagnosed in patient 2. Initial symptoms were right-sided deafness and dizziness. Neurological examination revealed nystagmus, ataxia and involvement of th 5th and 6th cranial nerve. A progressive improvement of hearing loss and total recovery of the other brain stem symptoms was evident. In conclusion every patient with sudden hearing loss should be examined for additional brain stem symptoms since this can be the presenting sign of a life-threatening basilar artery thrombosis.
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PMID:[Hearing loss as the leading symptom in anterior inferior cerebellar artery infarction]. 956 60

We report on seven Japanese families with spinocerebellar ataxia type 6 (SCA6) carrying small CAG repeat expansions in the calcium channel alpha1A subunit gene. The number of the expanded CAG repeat, ranged from 22 to 25, showed no intergenerational instability and had a significant inverse correlation with the age of onset. The clinical features of these patients were late onset progressive pure cerebellar ataxia with dysarthria and nystagmus, and are consistent with autosomal dominant cerebellar ataxia type III (ADCA type III). Magnetic resonance imaging scan of the brain demonstrated cerebellar atrophy with no evidence of brainstem involvement. We propose that clinical phenotype of SCA6 is compatible with ADCA type III and SCA6 is one of the most common types of ADCA in Japan.
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PMID:Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6. 960 Jun 77

Hereditary paroxysmal ataxia is a rare dominantly inherited disorder characterized by recurrent attacks of cerebellar ataxia, dysarthria, and nystagmus. Each attack lasts from several minutes to few hours or days. Usually there are no motor difficulties between attacks. We report a patient who had had recurrent ataxic episodes since early childhood. Four members of the family over two generations had similar attacks. There were no abnormalities in the laboratory studies including plasma amino acid, lactate, pyruvate, and EEG. Treatment with acetazolamide resulted in complete abolition of the attacks. Because of its dramatic response to acetazolamide, the recognition of this rare disorder is important.
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PMID:Acetazolamide-responsive hereditary paroxysmal ataxia: report of a family. 961 Jun 22

Using proton magnetic resonance spectroscopy (1H-MRS) and single photon emission CT (SPECT), the cerebellum of patients with olivopontocerebellar atrophy (OPCA) and of age-matched control subjects was studied. A spectrum was collected from a 27 cm3 (3 x 3 x 3 cm) voxel in the cerebellum containing white and gray matters in order to measure the distribution and relative signal intensities of N-acetylaspartate (NAA), creatine (Cre) and choline (Cho). In the cerebellum of the patients with OPCA, mean NAA/Cre ratios for OPCA patients were significantly decreased compared with normal control subjects (OPCA, 1.01 +/- 0.247; controls, 1.526 +/- 0.144: p < 0.001). Mean NAA/Cho ratios for OPCA patients were slightly decreased (OPCA, 1.285 +/- 0.228; controls 1.702 +/- 0.469: p < 0.06). Cho/Cre ratios valued in the cerebellum of OPCA patients were not significantly different from those in normal controls (OPCA, 0.793 +/- 0.186; controls, 0.946 +/- 0.219). The ratio of RI count in the cerebellum to that in the occipital lobe was significantly decreased in OPCA patients (OPCA, 0.947 +/ 0.096; controls, 1.06 +/- 0.063: p < 0.01). Cerebellar signs were assessed including gait ataxia, limb ataxia, dysarthria, saccadic pursuit, and nystagmus separately or in combination. In patients with more severe ataxic gait and dysarthria. MRS revealed slightly lowered NAA/Cre ratio. There was no significant correlation between NAA/Cre ratio and severity of other clinical signs. The MRS and SPECT findings give a confirmative evidence of hypofunction in cerebellum of patients with OPCA.
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PMID:[Proton magnetic resonance spectroscopy and single photon emission CT in patients with olivopontocerebellar atrophy]. 974 73


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