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)

Recurrent episodes of abdominal pain are common in childhood. Among the diagnostic possibilities are migraine and abdominal epilepsy (AE). AE is an infrequent syndrome with paroxystic episodes of abdominal pain, awareness disturbance, EEG abnormalities and positive results with the introduction of antiepileptic drugs. We present one 6 year-old girl who had short episodes of abdominal pain since the age of 4. The pain was followed by cry, fear and occasionally secondary generalization. MRI showed tumor in the left temporal region. As a differential diagnosis, we report a 10 year-old boy who had long episodes of abdominal pain accompanied by blurring of vision, vertigo, gait ataxia, dysarthria, acroparesthesias and vomiting. He received the diagnosis of basilar migraine. In our opinion, AE is part of a large group (partial epilepsies) and does not require a special classification. Pediatric neurologists must be aware of these two entities that may cause abdominal pain.
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PMID:Recurrent abdominal pain: when should an epileptic seizure be suspected? 1224 4

A patient with Schmidt's syndrome and atypical symptoms of Addison's disease is presented. Autoimmune thyroiditis was diagnosed at the age of 12 years and then at 15 years; a diagnosis of migraine was made following 10 days of headache, visual field defects and dysarthria. One week later the patient was admitted to hospital in critical condition. Addison's disease was diagnosed and replacement therapy was introduced which brought about a rapid clinical improvement. Positive adrenal autoantibodies confirmed the diagnosis. We suggest that patients with organ-specific autoimmune disease undergo annual screening for adrenal activity, and in the event of abnormal results, adrenal autoantibody evaluation should be carried out, to avoid a life-threatening crisis caused by Addison's disease, which is often difficult to recognize due to atypical clinical presentation, as in the patient reported here.
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PMID:Unusual presentation of Addison's disease in Schmidt's syndrome. 1288 Jan 29

Three patients, two women aged 72 and 45 years, and a man aged 80 years, presented with transient neurological deficits due to a brain tumour, a glioblastoma multiforme and two meningiomas respectively. A fourth patient, an 84-year-old man, had a transient ischaemic attack (TIA) with a meningioma as an incidental finding. The first woman had normal CT findings, but MRI revealed the neoplasm. Symptoms included motor loss, sensory disturbances, dysphasia and dysarthria, lasting from 30 seconds up to 10 minutes. The first two patients had surgery; the first one later died when the tumour recurred. The other two patients still exhibit a spontaneous recovery. Of all patients with a clinical presentation of a TIA, 0.4-1% harbour a brain tumour. Clinical symptoms do not distinguish 'transient tumour attacks' from TIAs with a primarily vascular origin. Transient tumour attacks are mainly seen with meningiomas, and to a lesser extent with high-grade gliomas. Changes in intracranial pressure leading to focal ischaemia may explain the occurrence of this phenomenon. A part from intracerebral tumours, non-vascular entities mimicking TIAs can also be seen with demyelinating processes, metabolic disturbances, epilepsy or migraine. Brain imaging is always required in patients with transient neurological deficits. A CT scan may provide false-negative results and in case of doubt, MRI is the preferred diagnostic tool.
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PMID:[Not every TIA is primarily vascular]. 1500 60

Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A. Ataxic spells lasting minutes to hours are provoked by stress, exercise, or alcohol. Some patients exhibit nystagmus between spells and some develop progressive ataxia later in life. At least 21 distinct CACNA1A mutations have been identified in EA2. The clinical and genetic complexities of EA2 have offered few insights into the underlying pathogenic mechanisms for this disorder. We identified a novel EA2 kindred in which members had ataxic spells induced by fevers or high environmental temperature. We identified a novel CACNA1A mutation (nucleotides 1253+1 G-->A) that was present in all subjects with febrile spells or ataxia. Moreover, we found that, regardless of age or interictal clinical status, all affected subjects had objective evidence of abnormal saccades, ocular fixation, and postural stability. These findings suggest that early cerebellar dysfunction in EA2 results from the intrinsically abnormal properties of the CACNA1A channel rather than a degenerative process.
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PMID:Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. 1468 82

A cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is described with a pedigree suggestive for an autosomal dominant condition. In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the NOTCH 3 gene were found. The disease occurred in a family living near Hamburg, Germany, and affected 11 women and 11 men over the last six generations. Onset of the disease was between the age of 12 and 50. Clinical symptoms included gait disturbances, dysarthria, sensomotoric deficits and a progressive dementia. Migraine-like complaints and epileptic seizures were observed in one case each. Cranial computer tomography and magnetic resonance imaging scans showed large confluent areas with decreased density in the white matter and small necroses in the brain stem, the basal ganglia and the white matter. A correlation with factors predisposing for vascular diseases could not be demonstrated. In five cases an autopsy was performed which disclosed an angiopathy affecting predominantly the penetrating arteries with consecutive lacunar infarcts, diffuse demyelination and rarefication of the subcortical white matter and degeneration of the pyramidal tracts. Histologically, the vessels showed concentric and excentric intimal proliferation, an elastosis and hyalinosis, splitting of the lamina elastica interna and a degeneration of the tunica muscularis. Electron microscopy revealed fragmentation and thickening of the basal lamina but electron-dense granules characteristic for CADASIL were not detected.
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PMID:Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. 1522 37

Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with hemiparesis during the aura. In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus. Recently, mutations in ATP1A2 on chromosome 1q23 encoding a Na+/K+ -ATPase subunit were identified in four families (FHM2). We now describe an FHM2 pedigree with a fifth ATP1A2 mutation coding for a G301R substitution. The phenotype was particularly severe and included hemiplegic migraine, seizure, prolonged coma, elevated temperature, sensory deficit, and transient or permanent cerebellar signs, such as ataxia, nystagmus, and dysarthria. A mild crossed cerebellar diaschisis during an attack further supported the clinical evidence of a cerebellar deficit. This is the first report suggesting cerebellar involvement in FHM2. A possible role for CACNA1A in producing the phenotype in this family was excluded by linkage studies to the FHM1 locus. The study of this family suggests that the absence of cerebellar signs may not be a reliable indicator to clinically differentiate FHM2 from FHM1.
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PMID:A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 1545 25

Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked to the SPG4 locus on chromosome 2p as previously reported for pure HSP. Sequence analysis of the SPG4 (spastin) gene identified a novel 1593 C > T (GLN490Stop) mutation leading to premature termination of exon 12 with ensuing truncation of the encoded protein. However, the mutation was only identified in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance of these features to SPG4 is unclear. Electrophysiologic investigation showed increased central conduction time at somatosensory evoked potentials measured from the lower limbs as the only abnormal finding in two affected individuals with the SPG4 mutation. Moreover, PET of one patient showed significantly relatively decreased regional cerebral blood flow in most of the cerebellum. We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations.
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PMID:Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. 1566 12

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

A 43-year-old woman was undergoing radiofrequency catheter ablation of a symptomatic supraventricular tachycardia when a patent foramen ovale (PFO) was detected with passage of the diagnostic electrocatheter into the left atrium. Prior echocardiographic studies had been unrevealing. Upon questioning during the procedure, the patient now admitted to frequent and disabling daily migraine attacks, while her family described two recent brief episodes of disorientation and dysarthria, consistent with transient ischemic attacks. The patient was informed of the option of future closure of the PFO, but she insisted on having this done concurrently with her ablation procedure. After successful ablation of the slow pathway considered responsible for the supraventricular tachycardia, an Amplatzer closure device was utilized and the PFO was successfully closed during the same procedure. A postprocedural transesophageal echocardiogram showed complete sealing of the PFO, while over the ensuing 10 months the patient reported virtual elimination of her daily attacks of migrainous headaches, limited to a single episode the day after the procedure and none thereafter.
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PMID:Transcatheter closure of patent foramen ovale during a radiofrequency ablation procedure. 1693 79

A 36 year old woman ruptured her right Achilles tendon in a skiing accident. Previous medical history is unremarkable except for a history of migraine for many years. She is married with three children with no history of spontaneous miscarriage. She smokes 15 cigarettes a day and takes the oral contraceptive pill. She is admitted to a local hospital where surgery to repair the Achilles tendon is performed followed by fitting of a plaster cast. Due to pain from the plaster cast she is slow to mobilise. On day 7 postoperatively she develops increasing pain in the right leg. When the plaster is removed the right calf is found to be painful, warm, and swollen. The next day while straining on the toilet she collapsed with left arm weakness. Clinical examination revealed dysarthria with pyramidal weakness of the left arm. The significance of these symptoms, the diagnosis, and the short and long term treatment of these postoperative problems are discussed in an interactive case presentation.
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PMID:Learning on the Web. Case 2: patent foramen ovale (PFO) and paradoxical embolism. 1806 45


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