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)

Autosomal recessive ataxias are a heterogeneous group of rare disorders characterized by early onset ataxia associated with neurologic, ophthalmologic or systemic signs. The ataxias associated with myoclonus, epilepsy and progressive neurological degeneration are usually included with the progressive myoclonus epilepsies, one of which is Unverricht-Lundborg disease. We identified four siblings with ataxia, juvenile onset progressive action tremor and atonic seizures from a Jordanian family. The mode of inheritance of this syndrome is autosomal recessive. We performed a genome-wide screen for linkage and fine mapped the region that contains the disease locus. The four affected siblings have ataxia noted at the onset of walking with dysarthria and bulbar features, but no cerebellar hypoplasia on MRI. They all developed a fine tremor that progressed to a coarse action tremor, as well as atonic seizures. Treatment with valproate fully controlled the seizures and improved the tremor, but did not change the course of the ataxia. We mapped the gene responsible for this disorder to the pericentromeric region of chromosome 12. A recently described autosomal recessive variant of Unverricht-Lundborg disease also maps to the same region. We discuss the similarities and differences between our family and the family with the Unverricht-Lundborg disease variant.
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PMID:A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. 1637 7

Basilar-type migraine (BTM) is a type of migraine with aura symptoms resulting from brain stem or bi-hemispheric structures but without motor elements. There are no precise data on the frequency of BTM. The main cohort of the patients includes young people and children with female predomination. The onset of the disease usually occurs before the age of 25. The diagnosis of BTM is based on the finding of two migraine attacks accompanied by a specific aura, with dysarthria, vertigo, tinnitus, impaired hearing, double vision, visual aura elements, ataxia of a cerebellar type, loss of consciousness, and bilateral paresthesias. In the differential diagnosis one should consider the pathology of posterior fossa, diseases with recurrent vertigo, complex epileptic seizures, CADASIL and MELAS syndromes, and alternative hemiplegic migraine with cerebellar symptoms and signs. In the prophylaxis sodium valproate and calcium-entry blockers and, especially in the prophylaxis of vertigo, betahistine chloride are used.
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PMID:[Basilar-type migraine: pathophysiology, symptoms and signs, and treatment]. 1641 73

Structural abnormalities related with pseudobulbar palsy have been gaining attention because of their characteristic symptoms and unique pathogenesis. We present five cases of bilateral perisylvian ulegyria (BPU) presenting epilepsy and pseudobulbar palsy with pathogenesis different from previously reported syndromes. All patients showed medically intractable seizures, complex partial seizures with secondary generalization and clinical symptoms of pseudobulbar palsy, including dysarthria, limitation of tongue movement and drooling. MRI revealed BPU in all patients, and BPU associated with hippocampal sclerosis in four patients. Intracranial EEG recording with subdural grip and stripe was helpful for localizing the area of ictal generation. Resective surgeries, including the temporal lobe, central area and parietal lobe, were performed depending on the localizing information. The surgical outcome was favorable after 9.8 years of follow-up. Characteristic features of ulegyria were confirmed on pathological examination. Ulegyria is considered to be another important perinatal or postnatal structural abnormality which can explain the etiological heterogeneity for pseudobulbar palsy, which results from bilateral perisylvian lesions. Awareness of this disorder can provide a useful strategy for evaluation and treatment which differs from that in perisylvian polymicrogyria.
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PMID:Bilateral perisylvian ulegyria: clinicopathological study of patients presenting with pseudobulbar palsy and epilepsy. 1677 Nov 81

Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 syndrome [r(20)], while dysmorphic features, mental retardation and behavioural disturbances are widely variable. The clinical evolution of r(20) over time is not well defined as relatively few cases have been reported. Here we describe a patient with severe clinical features followed for a 25-year period. The patient was subjected to clinical, psychometric and EEG evaluation twice a year from the age of 21 years. Cytogenetic studies, using chromosome analysis and fluorescence in situ hybridization (FISH) and several immunological investigations were performed. Ring chromosome 20 was found in 50% of examined metaphases with the deletion of subtelomeric regions 20p and 20q. Our patient presented with marked dysmorphic features, severe mental retardation, tetraparesis, dysarthria and intractable epilepsy with onset during the first year of life. During follow up, EEG findings and clinical features progressively worsened: a progressive disorganization of background EEG activity occurred and mental and motor impairment evolved. The severity of clinical expression depended on the extent of chromosomal deletion and on the haploinsufficiency of other important related genetic loci due to ring instability. The progressive worsening of both clinical and EEG features over a long period, which has also been reported by other authors, further characterized this syndrome.
Seizure 2006 Sep
PMID:Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. 1680 95

We describe the neurological manifestations of 119 patients with WD (93 index cases and 26 affected family members) seen between 1963 and 2004. The mean age at symptoms onset was 19.6 years (range, 7-37 years). Medical records were reviewed for the patient's first neurological examination. The most frequent neurological manifestations observed were dysarthria (91%), gait disturbance (75%), risus sardonicus (72%), dystonia (69%), rigidity (66%), tremor (60%), and dysphagia (50%). Less frequent manifestations were chorea (16%) and athetosis (14%). Rare neurological presentations were seizures (4.2%), and pyramidal signs (3%).
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PMID:Neurological manifestations in Wilson's disease: Report of 119 cases. 1707 70

Marchiafava-Bignami disease (MBD) is a rare central nervous system disorder of an unknown etiology strongly associated with alcoholism. MBD primarily affects the corpus callosum leading to confusion, dysarthria, seizures and frequently to death. About 250 cases of different races and nationalities, mostly alcoholics have been reported. We report a single-case study of a 43-year-old woman with the history of severe alcohol abuse, who demonstrated typical picture of Marchiafava-Bignami disease (MBD) with fatal course. We reviewed the literature on cases of MBD.
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PMID:[Marchiafava-Bignami disease]. 1720 61

Diffuse astrocytoma with bilateral thalamic involvement is extremely rare. We present a case of 10 years old female who presented with decreased mentation, dysarthria, decreased performance at school and later on with seizures. MRI scans were performed twice and were reported as Leigh's disease and hemimegalencephaly respectively. Patient presented again with complaint of unconsciousness, vomiting and chest congestion. No further imaging was performed. Biopsy showed grade III Astrocytoma with bilateral thalamic involvement. Patient was admitted to intensive care unit but could not survive and expired.
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PMID:Diffuse bilateral thalamic astrocytoma. 1737 6

It is known that rotavirus gastroenteritis can accompany some neurological manifestations, including encephalitis/encephalopathy or seizures. However, the detailed pathogenesis involved has not been fully understood. To date, acute cerebellitis associated rotavirus gastroenteritis has not been previously reported, except for one case. Herein, we describe two cases of acute encephalitis/encephalopathy and concurrent cerebellitis, associated rotavirus gastroenteritis. Following vomiting and diarrhea, case 1 experienced convulsions and consciousness disturbance and case 2, transient loss of consciousness with eye deviation. After these symptoms subsided, cerebellar signs became evident and a brain MRI showed cerebellar involvement in both cases. Both cases showed speech disturbances, such as mutism, slow speech and dysarthria. In this report, we will discuss the possible pathogenesis of rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis.
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PMID:Rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis: report of two cases. 1753 86

An intracranial saccular aneurysm is not commonly diagnosed in a patient with head injury. We present a patient with a history of minor head trauma and a CT scan of the brain revealing minimal subarachnoid hemorrhage 17 days prior to admission, complaining of severe headache, dysarthria and focal right limb seizures 3 hours prior to admission. A traumatic aneurysm was suspected based on clinical history and radiological findings including hematoma in the falx region on a CT scan of the brain and an aneurysm of the pericallosal artery on magnetic resonance angiography and four-vessel cerebral angiography. However, at craniotomy, an intracranial non-traumatic saccular aneurysm at the bifurcation of the pericallosal artery was found. The patient recovered fully after successful clipping the aneurysm.
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PMID:Delayed rupture of pre-existing cerebral aneurysm in a young patient with minor head trauma. 1795 76

We present a case of a 4-year-old previously healthy child who had a possible first-time seizure at home, and upon a second Emergency Department evaluation was found to have gross cerebellar ataxia suggestive of acute stroke. Initial computed tomography scan and metabolic work-up were unrevealing. Subsequent neuroimaging demonstrated stroke in the left medulla and cerebellum secondary to left vertebral artery dissection. Cervical artery dissection may cause up to 20% of strokes in childhood and adolescence. Unlike typical adult presentations, antecedent or concurrent head and neck pain occurs less often in pediatric dissections. Symptoms of posterior circulation ischemia resulting from vertebral artery dissection may include vertigo, vomiting, ataxia, dysarthria, and seizure. Willingness to utilize newer, non-invasive imaging modalities may lead to earlier recognition of cervical artery dissection when patients have prodromal symptoms or episodes of transient ischemia. Vertebral artery dissection should be included in the differential diagnosis when evaluating children with first time seizure, headache, or neck pain.
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PMID:A preschool-age child with first-time seizure and ataxia. 1797 66


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