Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied 36 patients with MRI-proven isolated acute pontine infarct. Corresponding to the constant territories of intrinsic pontine vessels, infarcts followed a predictable distribution, enabling us to delineate three main syndromes. Twenty-one patients had a ventral pontine infarct. Motor involvement varied from mild hemiparesis (ventrolateral pontine syndrome) to severe hemiparesis with bilateral ataxia and dysarthria (ventromedial pontine syndrome). In addition, three-fourths of the patients had clinical evidence for usually mild tegmental dysfunction. Eleven patients had a tegmental pontine infarct, presenting tegmental signs (eye movement disorders, cranial nerve palsies, sensory disturbances), and mostly mild motor deficits (tegmental pontine syndrome). Only four patients had alternating deficits, and these never corresponded to any of the so-called classic pontine syndromes. Infarcts in the medial and the extreme lateral tegmental territory were never observed in isolation, being always associated with cerebellar or larger (and multiple) infarctions in the posterior circulation. Four patients with a bilateral ventrotegmental pontine infarct presented with acute pseudobulbar palsy, bilateral motor deficits, and tegmental signs. The results of etiologic work-up emphasize the concept of basilar artery branch disease, which was the most common presumed cause of stroke (16/36, 44%). Basilar artery branch disease was particularly associated with large ventral infarcts, severe clinical symptomatology, progressive or fluctuating course, and local recurrence. Presumed small-artery disease (9/36, 25%) was usually associated with small ventral or tegmental infarcts and rapidly improving lacunar syndromes. Large-artery stenosis (8/36, 22%) and cardioembolism (1/36, 3%) were less common than in series of posterior circulation infarcts that include simultaneous pontine and extrapontine lesions. Recovery was good in two-thirds of the patients, the worse outcome being associated with large ventral infarcts.
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PMID:Isolated infarcts of the pons. 855 68

We describe a 64-year-old man with cerebrovascular disease who had an acute stroke characterised by pseudobulbar palsy, facial weakness, and pyramidal signs. He developed frequent emotional outbursts followed by periods of apneusis. Between these episodes he breathed with a regular and unvarying rate and tidal volume. Autopsy showed extensive cortical, subcortical and pontine infarction. The respiratory pattern indicated a dissociation between voluntary and automatic pathways. The descending limbic pathways were preserved but an abnormal pattern of automatic breathing (ie, apneusis) occurred because of the presence of bilateral pontine infarction.
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PMID:Apneustic breathing provoked by limbic influences. 894 96

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary stroke disease linked to chromosome 19 q 12. We report on two families affected by this disease, which is characterised by recurrent subcortical ischaemic strokes, progressive pseudobulbar palsy, and presenile dementia. Neuroimaging revealed multiple deep infarcts and diffuse leukoencephalopathy. Diagnosis of CADASIL based on the typical clinical feature without vascular risk factors, the neuroradiological signs of extensive leukoencephalopathy, and the autosomal dominant pattern of inheritance. CADASIL might be an underestimated cause of familial stroke and should be considered in the differential diagnosis of hereditary stroke.
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PMID:[CADASIL: 2 case reports of hereditary multi-infarct dementia]. 915 51

Foix-Chavany-Marie syndrome (FCMS) is characterized by facio-linguo-masticatory diplegia in the absence of limb weakness. The most common cause is a cortical lesion resulting from a stroke but a congenital form has been reported. We present the case of a 53-year-old man who was admitted to hospital with worsening dysphagia which was know to have been present together with anarthria and facial palsy, since birth. He demonstrated features of FCMS with pseudobulbar palsy and unaffected reflexes and automatic responses. Cranial CT and MRI scans showed bilateral opercular lesions of CSF intensity in continuity with the lateral ventricles. We conclude that this case of static FCMS for over 50 years may represent a 'pure' form of congenital FCMS with motor symptomatology and unaccompanied by mental retardation or epilepsy.
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PMID:Pure congenital Foix-Chavany-Marie syndrome. 935 33

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy) is a newly discovered inherited cerebrovascular disease characterized clinically by recurrent stroke-like incidents, dementia and often pseudobulbar palsy. Neuroimaging reveals intensive subcortical changes and pathologically one finds apparently systemic changes concerning the vessels such as thickening of the vessel wall, loss of smooth muscle cells and patches of granular material of unknown origin. The disease is not associated with atherosclerosis and vascular risk factors are missing or few. The CADASIL-locus maps to chromosome 19, but the gene has not yet been identified. Treatment and pathogenesis are unknown. In a Danish stroke population (The Copenhagen Stroke Study) no CADASIL-suspected cases were found among patients < or = 55 years, indicating a rare disease as far as Denmark is concerned.
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PMID:["CADASIL"--a newly discovered hereditary cerebrovascular disease]. 952 53

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.
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PMID:The phenotypic spectrum of CADASIL: clinical findings in 102 cases. 981 28

To clarify the diagnostic value of corneomandibular reflex (CMR) in ALS, the authors examined the prevalence of CMR and other pathologic reflexes in 42 patients with ALS and 110 patients with stroke. A total of 30 of 42 ALS patients had positive CMR. Compared with the patients with hemiparesis or pseudobulbar palsy after stroke, the ALS patients showed a significantly higher frequency of CMR but no other pathologic reflexes. CMR is a sensitive indicator of upper motor neuron involvement in ALS.
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PMID:Corneomandibular reflex in ALS. 1033 5

Behcet's disease (BD) is a chronic, multisystemic disorder with variable prevalence in different geographical areas. Neurological manifestations (neuro-Behcet's disease, NBD) are well recognized. We studied 40 Iraqi patients with NBD from a neurological unit in a large teaching hospital, all fulfilling the International Study group criteria for the diagnosis of BD. There were 37 males and three females. Thirty-nine were Arab Muslims and one was a Kurd Muslim. Mean age at neurological presentation was 29+/-7.6 years (range 18-50 years). Fifteen out of 23 tested patients (65%) had a positive pathergy test and seven out of 13 tested (54%) had HLA-B5(51). A classification into three reasonably clear distinctive main patterns of neurological presentation is proposed. First: a parenchymal CNS pattern (the commonest) - 26 patients (65%), which included three relatively common forms: brain stem syndrome (10 patients), diffuse form (predominantly with pseudobulbar signs) (nine patients) and cerebral stroke-like form (five patients); and two less common forms: psychiatric and myelopathy (one patient each). Second: intracranial hypertension (IH) (with papilledema) - 11 patients (27.5%). Third: meningitis-like pattern - three patients (7. 5%). This classification has clinical, etiopathological, therapeutic and prognostic implications. In conclusion, NBD is not uncommon in Iraq, and it affects predominately Arab Muslims. BD should be routinely looked for in adult patient, especially males, in their third and fourth decades who present with IH and papilledema, brain stem syndrome, pseudobulbar palsy, stroke, meningitis or myelopathy.
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PMID:Neuro-Behcet's disease in Iraq: a study of 40 patients. 1056 25

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease that is characterized by recurrent stroke episodes and focal neurologic deficits progressing to pseudobulbar palsy and dementia. The causative gene is the Notch3 gene on chromosome 19, and 22 missense mutations have been identified in Caucasian patients to date. To perform mutational analysis of the Notch3 gene, we identified its exon intron boundaries and prepared sets of primers for amplification of each exon. Using these primers, we determined the Notch3 gene in a Japanese family with CADASIL symptoms and found a missense mutation (Arg133Cys) in exon 4. The mutation was heterozygous and cosegregated with the disease. Thus, the Notch3 gene is responsible for CADASIL in patients across different ethnic groups.
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PMID:Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 1060 71

To clarify the characteristics of CADASIL in Japan, we performed clinical and genetic investigations for six patients from 5 Japanese families diagnosed as CADASIL. We identified that the onset of focal neurologic deficits ranged from 38 to 63 years old (mean 49 +/- 9.4 yrs) and the occurrence rates of main neurologic symptoms and signs were 1/6 for migraine, 3/6 for recurrent stroke episodes, 6/6 for dementia, and 4/6 for pseudobulbar palsy. The marked narrowing of retinal arteries were observed in 3/6. The notch 3 mutations were all found in exon 4. Although other several families shared similar phenotype of CADASIL, there were no deposition of granular osmiophilic materials within the basal lamina of smooth muscle cells in the arterioles of biopsied muscle and no mutations in the cording regions of notch 3 gene. We investigated prospectively the incidence of CADASIL and CADASIL-like disease in Kumamoto district from 1999 to 2000. One thousand and thirty four patients with stroke were hospitalized in 6 hospitals which have stroke care unit. Among them, 7 patients fulfilled the criteria that were less than 60 years old, lacunar strokes and/or TIA, presence of a family history, and no risk factors such as hypertension, diabetes mellitus, and hyperlipidemia. One of seven patients was diagnosed as CADASIL by DNA analysis. It was suspected the incidences of CADASIL and CADASIL-like disease were not so rare in Japan.
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PMID:[CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan]. 1146 69


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