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)

A 25-year-old woman suffered from hyperemesis gravidarum when she was seven weeks pregnant. Since her vomiting continued, she received intravenous dextrose and electrolytes without thiamine in a hospital. One month later, she developed gait disturbance, followed by confusion and dysarthria. On admission to our department, she was confusional and had ataxic dysarthria. Spontaneous and gaze evoked nystagmus was present. Limb coordination was bilaterally ataxic. Based on her clinical course and symptoms, she was diagnosed as having Wernicke's encephalopathy. From the admission day, intravenous infusion of vitamin B1 (600 mg/day) was started. A few days later, her consciousness and limb ataxia began to improve. However, truncal ataxia and polyneuropathy became evident. Eight weeks after onset, she developed Korsakoff's psychosis such as anterograde and retrograde amnesia, disorientation and confabulation. We administered large amounts of corticosteroid (methylprednisolone 500 mg/day) in order to reduce brain edema or stabilize the impaired blood-brain barrier. Soon after, her psychosis began to improve gradually. She recovered remarkably from the psychosis, but she was left with persistent nystagmus, mild ataxic gait and polyneuropathy. The present case suggests that corticosteroid may have the beneficial effect on Wernicke-Korsakoff syndrome.
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PMID:[Beneficial effect of steroid pulse therapy on Wernicke-Korsakoff syndrome due to hyperemesis gravidarum]. 795 22

Paraneoplastic cerebellar degeneration (PCD) is a rare manifestation of cancer, characterized clinically by subacute progressive ataxia, dysarthria and nystagmus. The pathological hallmark of PCD is a severe, diffuse loss of Purkinje cells. PCD occurs most frequently in association with small cell carcinoma of the lung and adenocarcinoma of the ovary, but it has also developed in patients with carcinoma of the breast, malignant lymphoma, and various cancers. Autoantibodies against cerebellar Purkinje cells have been frequently observed in the serum or cerebrospinal fluid (CSF) from patients with PCD. The cause of PCD is unknown, but the presence of these autoantibodies in some patients suggests that the pathogenesis may be immune mediated. The potential role of the autoantibody in the pathogenesis of PCD is discussed.
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PMID:[Paraneoplastic cerebellar degeneration]. 799 1

Mild overdosage of phenytoin produces reversible cerebellar symptoms (nystagmus, double vision, dysarthria and ataxia). Several case reports suggest that relatively mild and relatively short intoxication can lead to cerebellar degeneration. We observed 11 patients who had episodes of abnormally increased serum levels, most of which developed clinical signs of cerebellar dysfunction. All of these patients were examined with a 1.5-tesla whole-body system (Magnetom, Siemens). Five patients had normal cerebellar structures, although 3 of them had a history of clinical intoxication and all had at least one episode of increased serum level of diphenylhydantoin. The remaining 5 had moderate to severe cerebellar atrophy. Two of them never experienced signs of clinical intoxication. There was no correlation between degree of atrophy and severity of clinical symptoms and elevation of serum DPH levels. There was no correlation between cerebellar atrophy, duration of epilepsy and frequency of seizures.
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PMID:Phenytoin overdosage and cerebellar atrophy in epileptic patients: clinical and MRI findings. 800 16

The territory of the lateral branch of the posterior inferior cerebellar artery (1PICA) supplies the anterolateral region of the caudal part of the cerebellar hemisphere. Because infarcts in the territory of the 1PICA have rarely been studied specifically, 10 patients with this type of infarct are reported. An 1PICA infarct was isolated in only three patients, whereas it was associated with brainstem infarct in four, with occipital infarct in one, and with multiple infarcts in two patients. The most common symptom at onset was acute unsteadiness and gait ataxia without rotatory vertigo (six patients). Unilateral cerebellar dysfunction was found in all patients, with limb ataxia (nine patients), dysdiadochokinesia (five patients), and ipsilateral body sway (four patients), but dysarthria and primary position nystagmus were notably absent. In the patients with a coexisting infarct in the brainstem, cranial nerve and sensorimotor dysfunction was prominent and often masked the signs of cerebellar dysfunction. Unlike other infarcts in the PICA territory, 1PICA territory infarcts were mainly associated with vertebral artery atherosclerosis (six patients), whereas cardiac embolism was less common (three patients). Unilateral limb ataxia without dysarthria or vestibular signs suggests isolated 1PICA territory infarction and should allow its differentiation from other cerebellar infarcts.
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PMID:Infarcts in the territory of the lateral branch of the posterior inferior cerebellar artery. 808 72

The authors present the clinico-pathological findings in a member of a family residing in Akita Prefecture located in the north-eastern region of Japan. Four members in three generations of the family developed ataxia. The autopsied patient was a 42-year-old woman, who, at the age of 25, had developed progressive cerebellar ataxia with pyramidal spasticity and increased deep tendon reflexes predominant in the lower extremities. However, she retained fine movement of the hands and fingers and showed no dysarthria until the age of 35. She could no longer walk unassisted at 38 years old. She showed cerebellar ataxia in both hands and legs, dysarthria, bulging eyes, progressive extraoculomotor palsy with nystagmus, bradykinesia, sensory disturbance, and dystonia in the face, upper extremities, and fingers. Deep tendon reflexes were decreased, especially in the lower extremities. Subacute generalized muscular atrophy developed at the age of 39. She became bedridden and died of pneumonia. The clinical diagnosis was Type-2 of the entity known in Japan as Machado-Joseph disease. At neuropathological examination, the brain weight was 1,250 g. The spinocerebellar system including Clarke's column and the spinocerebellar tracts were degenerated, but the cerebellar cortex and inferior olivary nucleus were spared. Slight-to-moderate degeneration was observed in the pontocerebellar system. In the dentate nucleus, most of the neurons showed what is known in Japan as "grumose degeneration", but there was no neuronal loss or gliosis. The hilus of the dentate nucleus and the superior cerebellar peduncle were intact.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsied case of type 2 Machado-Joseph's disease or spino-pontine degeneration]. 821 97

Five family members were examined because of occurrence since childhood of recurrent episodes characterized by vertigo, dysarthria and gait ataxia. Analysis of the pedigree was consistent with an autosomal dominant mode of inheritance. Though asymptomatic between attacks, all the patients presented on examination a gaze-evoked and rebound nystagmus associated with a saccadic pursuit, a deficient optokinetic response and an inability to suppress the horizontal oculo-vestibular reflex by fixation; hypermetric saccades and truncal ataxia were also present in most of them. A sixth family member, aged 6 years, was found to present a gaze-evoked nystagmus but was completely asymptomatic. Response of the attacks to acetazolamide therapy (250 mg twice a day) was assessed in two patients and was either partial or complete. A positron emission tomography (PET) study was realized between ataxic spells in one patient and demonstrated a decrease of glucose metabolism in the whole cerebellum, the inferior part of the temporal lobes and the thalami. These PET data as well as the detailed neuro-ophthalmological findings bring new informations about acetazolamide-responsive hereditary paroxysmal ataxia, a rare but probably often misdiagnosed and treatable disorder.
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PMID:Acetazolamide-responsive hereditary paroxysmal ataxia: report of a new family. 829 22

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
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PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

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

A 59-year-old female was admitted with complaints of vertigo, dysarthria and dysphagia. On neurological examination, right-sided cranial nerve signs included ptosis, Bruns's nystagmus, decreased corneal sensation, diminished facial pain and temperature sensation, decreased palatal excursion and loss of gag reflex. There was no evident motor weakness, but deep tendon reflexes were slightly exaggerated on the left extremities. Coordination testing showed right cerebellar signs. Sensory examination of the remaining parts of the body was quite normal. X-ray CT scan showed multiple high density areas in the right medulla, right pons, right temporal and frontal lobes. T2 weighted MRI demonstrated these lesions as mixed signal intensity areas with marked low signal intensity rim. There were multiple black dots in the bilateral frontal and temporal lobes, cerebellar hemispheres on T2-weighted images. Carotid and vertebral angiograms showed no abnormality. This is the first report of the cavernous malformation presenting as lateral medullary syndrome.
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PMID:[Lateral medullary syndrome due to cavernous malformation in the brain stem]. 840 82

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


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