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J Y Goas

Publications and source records attributed to J Y Goas.

At least 19 recordsLinked to original sources
PubMed2000

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Autosomal dominant DOPA-responsive dystonia (DRD) is usually caused by mutation in the gene encoding guanosine triphosphate-cyclohydrolase I (GTPCH I). We studied 22 families with a phenotype of levodopa-responsive dystonia by sequencing the six coding exons, the 5'-untranslated region and the exon-intron boundaries of the GTPCH I gene. Eleven heterozygous mutations were identified, including five missense mutations, one splice site mutation, two small deletions and two nonsense mutations, in 12 families that included 27 patients and 13 asymptomatic carriers. Six mutations were new and five had already been reported. Four of the mutations caused truncation of the GTPCH I protein. One family carried a base-pair change in the 5'-untranslated region, not detected in controls, that could be responsible for the phenotype. Three of the remaining 10 families had deletions in the parkin gene on chromosome 6, underlining how difficult it is to distinguish, in some cases, between DRD and parkin mutations. No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia.

Adolescent↗
PubMed1999

[Marchiafava-Bignami disease. 3 cases with favorable prognosis].

INTRODUCTION: Marchiafava-Bignami disease is a complication of chronic alcoholism, with acute or subacute demyelination of the corpus callosum. Although subacute and benign forms of the disease have been described since the development of CT scan and MRI, it has usually a poor prognosis. EXEGESIS: We report three cases of Marchiafava-Bignami disease with favorable outcome. One of the patient was comatose upon hospital admission. Interhemispheric dysconnection syndrome was evidenced in two patients. CT scan and MRI showed lesions extending to the callosal white matter in these patients. CONCLUSION: Potential existence of Marchiafava-Bignami disease should be investigated in patients presenting with chronic alcoholism and mental confusion. However, accompanying coma and white matter demyelination should not necessarily be considered of poor prognosis. Clinical evaluation of interhemispheric dysconnection is of value in patients presenting with chronic alcoholism and mental confusion.

Adult↗
PubMed1999

[Sunct syndrome: case report and literature review].

The case of a woman with short neuralgiform paroxysmal attacks located in orbital-periorbital area and associated with autonomic features of ten years duration is reported. This headache syndrome is compared with trigeminal neuralgia involving the first branch of the nerve. Duration, intensity, spreading of the pain and presence of accompanying ipsilateral vasomotor phenomena may be of help in the differential diagnosis. According to the latest reports, sex distribution which passed from 17 men/2 women to 18/6 and effect of the carbamazepine on pain would not appear to have an effect. Nevertheless other reports are needed to distinguish these two clinical syndromes and to develop an etiological and pathogenesis hypothesis.

Aged↗
PubMed1997

[Acute polyradiculoneuritis and Lyme disease].

A thirty-three-year-old patient developed polyradiculoneuritis with several post-therapeutic relapses despite excellent response to treatment by intravenous polyvalent gammaglobulin. After the second relapse, positive titres for Borrelia burgdorferi were found in serum and C.S.F. We gave her intravenous antibiotic and clinical signs and electrophysiological data improved. Our report and the literature can distinguish two clinical and electrophysiological presentations of neurological peripheral involvement in Lyme disease: meningoradiculoneuritis with axonal involvement and polyradiculoneuritis with demyelinization.

Acute Disease↗
PubMed1996

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral arteriopathy characterized by the recurrence of subcortical infarcts leading to dementia. A genetic linkage analysis conducted in two large families recently allowed us to map the affected gene on chromosome 19 in a 12-cM interval bracketed by D19S221 and D19S215. In the present study, these first 2 families and 13 additional ones, including a total of 199 potentially informative meiosis, have been genotyped with eight polymorphic markers located between D19S221 and D19S215. All families were linked to chromosome 19. The highest combined lod score (Zmax = 37.24 at theta = .01) was obtained with marker D19S841, a new CAn microsatellite marker that we isolated from chromosome 19 cosmids. The recombinant events observed within these families were used to refine the genetic mapping of CADASIL within a 2-cM interval that is now bracketed by D19S226 and D19S199 on 19p13.1. These data strongly suggest the genetic homogeneity of this recently identified condition and establish the value of its clinical and neuroimaging diagnostic criteria. Besides their importance for the ongoing positional cloning of the CADASIL gene, these data help to refine the genetic mapping of CADASIL relative to familial hemiplegic migraine and hereditary paroxysmal cerebellar ataxia, conditions that we both mapped within the same chromosome 19 region.

Cerebral Arterial Diseases↗
PubMed1996

[Hemichorea and striatal infarction].

We present two cases of hemichorea associated with an arterial ischaemic stroke in the controlateral striatum and we reviewed 28 similar cases in the literature. The pathogenesis of this movement disorder involves the gabaergic and enkephalinergic neurons of the striatal matrice which mainly projects on the external globus pallidus. A destruction of the striatal neurons of the indirect striato-thalamo-cortical ways may reduce their inhibitory out flow on normal inhibited thalamic and cortical structures and then create abnormal choreiform movements. The scarcity of this phenomenon can be explained by: 1) the repartition of the enkephalinergic local circuit neurons which represent but one third of the motor striatal neuronal population; 2) the type of vascularisation which often involves larger territories in the striatum and the globus pallidus or the anterior limb of the internal capsule. These abnormal movements are often transient because of the regulation of accessory striato-nigro-striatal, cortico-striato-nigro-thalamo-cortical and cortico-luysin circuits. More over, because these hypotheses and after having reviewed all such cases in literature, choreic movements to pure thalamic involvement are to be questioned.

Aged↗
PubMed1994

High incidence of neurologic complications following rapid correction of severe hyponatremia in polydipsic patients.

BACKGROUND: Patients with self-induced water intoxication usually tolerate a large, rapid increase in plasma sodium without developing osmotically induced central pontine myelinolysis. However, we have previously reported a case of clinically suspected pontine myelinolysis in a patient with self-induced water intoxication. The purpose of our study was to investigate if a subgroup of these patients may also be vulnerable to neurologic complications of hyponatremia therapy. METHOD: Over a 10-year period, we identified retrospectively 12 polydipsic patients having a total of 24 episodes of symptomatic hyponatremia with plasma sodium < or = 115 mmol/L. The mode of treatment, the kinetics of correction, and the neurologic outcome were recorded. The presence of alcoholism was noted. RESULTS: Seven patients recovered uneventfully from 19 episodes of symptomatic hyponatremia. Five patients had delayed neurologic complications. Late therapy and/or respiratory arrest might have been associated with the complications for 2 patients. The other 3 patients experienced clinical features of central pontine myelinolysis leading to death in 1. Patients with neurologic complications had a higher maximal 24-hour increase in plasma sodium concentration (21.8 +/- 3.9 vs. 15.5 +/- 5.1 mmol/L, p < .02), and a higher incidence of both overcorrection to hypernatremia and chronic alcoholism, often associated with poor nutrition. All 5 patients became water intoxicated at home, and 2 patients with pontine dysfunction had subacute rather than acute hyponatremia. CONCLUSION: A large rapid increase in plasma sodium may also be detrimental in patients with self-induced water intoxication when they are alcoholic, malnourished, and have nonacute hyponatremia.

Adult↗
PubMed1993

[Cerebral ischemic arterial accidents in young adults. 40 cases].

We observed 40 patients aged from 15 to 40 years who suffered either a transient ischemic attack or an arterial ischemic stroke. All patients were clinically and physically examined, i.e. chest-X rays, electrocardiograms, biological tests and C.T. scan or magnetic resonance imaging that confirmed the diagnosis of ischemic cerebral infarction. Most patients underwent echocardiography and angiography. The time span between the onset of the ischemic event and angiography was recorded. A few of them had CSF analysis and determinations of antithrombin III, protein C and protein S. The etiology was confirmed in 15 patients (5 cardioembolic diseases, 7 vasculopathies, 3 coagulopathies). Twenty three had well-known vascular risk factors, but also an increase in serum fibrinogen concentration, which might have been associated with specific predisposing factors: oral contraceptives, patent foramen ovale, migraine, craniocervical trauma, acute alcohol intoxication and infectious diseases. No cause was found in 2 patients. We suggest a practical approach and highlight the value of angiography when performed early in the course of the illness to enhance the percentage of positive diagnosis. About 45 p. 100 of the patients followed-up (mean duration: 3 years) were unable to resume normal professional activity.

Adolescent↗
PubMed1992

[Inoperable brain metastases from bronchogenic cancers. Value of combined chemotherapy with cisplatin and 5 fluorouracil].

We report the results of a combined of chemotherapy with CDDP and 5 FU repeated every 3 weeks in sixteen men (age range 31-73 years) with brain metastases. CT was performed after 2, 4 and 6 cycles to assess efficiency. Response was considered complete when no lesion was found on the CT scan and partial when the lesion shrunk to least half its the total volume. After two cycles, the response rate was 8/16 (50%). Treatment toxicity was mild with only one case of severe but reversible myelotoxicity (grade III). CDDP and 5 FU combined chemotherapy can be a useful treatment for brain metastasis of lung carcinoma.

Adult↗
PubMed1991

[Chemotherapy with cisplatin and 5-fluorouracil in inoperable brain metastases of bronchopulmonary cancers].

Chemotherapy is not a common treatment for cerebral metastases. The authors report results of combination chemotherapy with cisplatin (CDDP) and fluorouracil (5-FU). Sixteen men (age range 31-73 years) with brain metastases were treated with CDDP 20 mg/m2/day in continuous infusion for 5 days (d 1-5) and 5-FU 1 g/m2/day in continuous infusion for 4 days (d 1-4), and the treatment schedule repeated every 3 weeks. A brain computerized tomography after 2, 4 and 6 cycles was performed to assess efficacy. It was considered that complete response was achieved if no lesion was found on the CT scan, and partial response if at least half of the total volume had decreased. After 2 cycles, the response rate was therefore 8/16 (50%). Treatment toxicity was very mild with only 1 case of severe but reversible myelotoxicity (grade III). It is concluded that chemotherapy combination with CDDP and 5-FU is a useful treatment for brain metastasis of lung carcinoma.

Adult↗
PubMed1991

[Type C Niemann-Pick disease: supranuclear ophthalmoplegia associated with deficient biosynthesis of cholesterol esters].

We report a familial case of Niemann-Pick disease type C which lasted until adulthood, and which had the characteristic deficiency in cholesterol esterification from exogenous cholesterol. A review of the literature was performed concerning cases which were seen in adults and were characterized biochemically. This study showed the frequency of supranuclear ophthalmoplegia affecting essentially vertical movements and convergence and of lipid-laden cells in bone marrow which are often sea-blue histiocytes.

Adolescent↗