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Biomedical subjects

S Sangla

Publications and source records attributed to S Sangla.

17 recordsLinked to original sources

Candidate gene studies in focal dystonia.

BACKGROUND: Genetic susceptibility factors for focal idiopathic torsion dystonia (F-ITD) are not established. Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed. OBJECTIVE: To investigate a possible role of DYT1 polymorphisms, a CA repeat in the D5 receptor gene (DRD5), the human leukocyte antigen (HLA)-DRB locus, and four polymorphisms in the homocysteine metabolism in the pathogenesis of F-ITD. METHODS: Initially, 100 German patients and 100 matched control subjects were investigated. A second French population with 121 F-ITD patients and matched control subjects was also studied. RESULTS: Two polymorphisms of the beta-cystathionine synthase gene were associated with F-ITD in the German population, but this finding was not replicated in a second independent F-ITD patient and control group of French origin. None of the other investigated polymorphisms was associated with F-ITD. The authors failed to confirm a previously reported association with a polymorphism in DRD5. CONCLUSION: No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗

[Movement disorders and botulinum toxin in neurology].

Botulinum toxin has been a useful treatment in many movement disorders and more recently in other non-neurological motor dysfunctions for more than 15 years. Here, we review the various indications in neurology, mainly in the field of movement disorders. From 1973 to 2002, we searched the Medline database on this topic. We selected the most useful and relevant papers, with a special interest in dystonia. We summarized the results in the main indications (spasmodic torticollis, bleparospasm, hemifacial spasm) and in other manifestations such as writer's cramp, oromandibular dystonia, tremor, tics and myoclonus. We discuss the data of literature and compare them with the experience of the French movement disorders groups.

Anti-Dyskinesia Agents↗

[Cerebral amyloid angiopathy presenting as a pseudotumor: 2 cases with spontaneously favorable outcomes].

A rare clinical and radiographical presentation of cerebral amyloid angiopathy mimicking a brain neoplasm was observed in 2 patients. The signs and symptoms included seizures and focal parieto-occipital dysfunction in 1 case, massive left hemisphere dysfunction and akinetic mutism in the other. Brain CT and MRI showed nonspecific focal white matter abnormalities suggestive of the diagnosis of low-grade glioma. Gradient echo T1 and T2-weighted images showing multiple areas of signal void suggesting multiple disseminated petechial hemorrhages led to the diagnosis of cerebral amyloid angiopathy. An eventless brain biopsy confirmed the diagnosis. The neuropathology examination disclosed amyloid angiopathy of the pial and cortical vessels selectively stained by anti A-beta protein antibodies. The clinical course was remarkable in the two cases with almost complete clinical recovery without any particular treatment.

Aged↗

[Secondary dystonias. Clinical analysis and diagnostic approach].

DEFINITIONS: Dystonia is a muscle contraction disorder marked by sustained involuntary clonic contortions or abnormal posture. Primary dystonias can be divided into familial forms related to genetic anomalies and idiopathic forms. Secondary dystonias are related to an underlying neurological disease. METABOLIC DISEASES: Secondary dystonias related to metabolic diseases generally occur early before puberty although late onset forms have been described. Other signs, in association with the dystonia, include mental retardation, epilepsy, cerebellous or pyramidal signs, oculomotor disorders, or a neuropathy. Occasionally, extraneurological signs suggest the diagnosis. Biological markers are known for most of these dystonias. EVENT-RELATED DISEASES: In some cases, the dystonia is the only sign and develops as a sequela to an earlier neurological event such as neonatal anoxia, trauma, vascular event or adverse effect of neuroleptics. HEMI-DYSTONIAS: Dystonias limited to one side are generally secondary.

Dystonia↗

[Bilateral intracranial subdural hematoma following lumbar puncture: report of a case].

A chronic, bilateral, intra-cranial subdural hematoma was diagnosed in a 28 year old man. A standard diagnostic spinal tap had been performed 6 weeks before. There was no other etiologic factor. Intra-cranial subdural hematoma is a rare complication of either diagnostic, therapeutic, or accidental lumbar puncture. Extensive literature review disclosed the description of 49 other cases, including only 3 cases following a standard diagnostic lumbar puncture. Outcome was fatal in 9 of them. The possibility of an intra-cranial subdural hematoma has to be considered in case of prolonged or unusual headache following a lumbar puncture, even with a headache-free period, knowing the emergency of the surgical therapeutic procedure. The most likely mechanism is subdural venous bleeding induced by the chronic intracranial hypotension due to the persisting lumbar meningeal wound.

Adult↗

[Cerebral infarction disclosing neurocysticercosis].

An ischaemic stroke related to neurocysticercosis observed in the Paris neighbourhood is reported. A 32-year-old man originating from Cape Verde presented a left lacunar stroke. CT scan showed multiple areas of calcifications and a left capsulostriatal lucency. Gadolinium enhanced MRI disclosed significant abnormalities surrounding the left middle cerebral artery in the sylvian fissure. The titers of anticysticercian antibodies were highly positive in the serum and the CSF. The investigations in search of another cause of the stroke were negative. The outcome was good after a treatment associating albendazole and methylprednisolone. The increasingly recognized links between neurocysticercosis and stroke, especially in endemic areas are reviewed. Neurocysticercosis is an exceptional cause of ischaemic stroke in non endemic areas. In non-endemic areas, this cause of stroke has to be systematically suspected in patients coming from endemic areas. The diagnosis is based upon MRI, CT scanner and serologic tests. Treatment requires anti-parasitic drugs. The role of the corticosteroids is discussed.

Adult↗

[Frontal cerebral abscess, a rare complication of nasosinusal polyposis. Apropos of a case].

Sinusonasal polyposis is frequent but usually benign. A 77-year-old woman with an history of sinusonasal polyps, presented with fever and neurologic impairment. Radiologic imaging showed a polypoïd mass filling the nose and sinuses, eroding the ethmoïd bone, progressing intracranially, and causing brain abscess. The literature is reviewed, according to the relations between brain abscess development and nasal polyposis, with emphasis on intracranial extension of sinusonasal polyps. Treatment of the nasal polyps, usually based on the use of local or general corticosteroïds, can avoid this serious complication.

Aged↗

[Unilateral paralysis of the lower cranial nerves caused by lesion of the internal carotid artery].

We report two cases of unilateral, isolated lower cranial nerves (IX, X, XI and XII) palsy: both were due to a lesion of the internal carotid artery in the para-pharyngeal space (a dissection and a pseudoaneurysm). The diagnosis was based upon magnetic resonance imaging and selective angiography. The normality of the external carotid artery on angiography led to the hypothesis of a direct compression of the lower cranial nerves in the para-pharyngeal space, rather than an ischemia of these nerves.

Carotid Artery Diseases↗

[Improvement of Joseph's disease with sulfamethazole-trimethoprim].

A case of Joseph's disease characterized by spasticity in all 4 limbs, dystonia and disorders of ocular motility was considerably improved by cotrimoxazole, which confirms a recently published case. Further studies are required to establish this therapeutic effectiveness.

Adult↗

Treatment of syringomyelia by syringo-peritoneal shunt.

Syringomyelic cavitation of various origins (excluding tumour) has been treated by syringo-peritoneal shunting (SPS) in 10 patients. The main clinical and radiological symptoms are reviewed and postoperative results evaluated; among the symptoms, pain is the most likely to improve after surgery. But the global outcome in the majority of cases remains unchanged, some patients showing neurological deterioration. Although MRI is of fundamental importance in diagnosis, the significance of the postoperative appearances on MRI has still to be elucidated. Other studies are certainly necessary to define the exact place of SPS in the treatment of syringomyelia.

Adult↗

[Neurocysticercosis disclosed by cerebrovascular complication].

Cysticercosis in one of the most common parasitoses in the world but is rare in France. This is the case of a thirty two years old man who had a stroke which revealed a neurocysticercosis, the diagnosis of which appeared on CT-scan. MR-imaging gave a more precise topographical diagnosis of the cysticercosis lesions and allowed a physiopathological understanding of the stroke. The ischemic lesion in the lenticulostriate territory was due to cysts in the sylvian fissure at the level of the beginning of those arteries with a perilesional inflammatory reaction. We learned the link between cysticercosis and stroke studing the cases reported in the literature.

Adult↗