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Biomedical subjects

François Tison

Publications and source records attributed to François Tison.

At least 19 recordsLinked to original sources
PubMed2007

Diagnostic indicators of restless legs syndrome in primary care consultations: the DESYR study.

The objective of this study is to determine whether spontaneous complaints about sleep or the legs could be used as potential indicators of restless legs syndrome (RLS) in primary care. A total of 351 general practitioners participated in the study. In a first historical patient identification phase, all patients with spontaneous complaints of sleep or leg symptoms over the previous year were identified. A control group without such complaints was identified. In a second prospective data collection phase, those who consulted a participating physician were interviewed to assess consensus diagnostic criteria of RLS. Severity was assessed with the International Restless Legs Syndrome Study Group severity rating scale. Of 1,405,823 patients consulting during the historical phase, a leg complaint was reported in 61,685 and a sleep complaint in 40,568. A total of 1,432 consulted during the prospective phase. A diagnosis of RLS was assigned to 42.6% of patients with leg complaints, 35.5% of those with sleep complaints, 54.9% of those with both complaints, and 12.9% of those with no complaints. Median RLS severity scores were 18.8 to 20.4. A total of 63.7% of patients were prescribed a venotonic, 43.7% a hypnotic, and 41.5% an anxiolytic. Complaints of sleep or leg symptoms are frequently associated with a diagnosis of RLS, and their presence should alert the physician to the possibility of a differential diagnosis of RLS.

Adult↗
PubMed2007

Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.

McLeod syndrome is an X-linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation in McLeod syndrome.

Adult↗
PubMed2006

Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.

As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of "neuroacanthocytosis" has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorders is the presence of thorny deformations of circulating erythrocytes. This may be due to abnormal properties of red cell membranes, which could lead to insights into mechanisms of neurodegeneration. Research approaches in this field, in addition to examining functions and protein interactions of the affected proteins with particular respect to neurons, have also drawn upon the expertise of hematologists and red cell membrane biologists. In this article, recent developments in the field are presented.

Animals↗
PubMed2005

[Parkinson's disease and associated disorders].

Besides the core motor features of Parkinson's disease, other disorders such as gastro-intestinal dysfunction, postural hypotension, urinary, genital, sleep problems and pain contribute to the alteration of patient's quality of life. Drooling, swallowing difficulties and constipation are the more frequent digestive problems. Aspirations may be life-threatening. Sexual dysfunction as well as iatrogenic hypersexuality may be deleterious for the couple well-being. Symptomatic postural hypotension is the main manifestation of autonomic failure and needs a specific management. Pain is frequent in Parkinson's disease, particularly due to frozen shoulder or to the peculiar picture of "primary sensory pain symptoms". Sleep disorders are common in Parkinson's disease and are associated with reduced quality of life and increased risk of vehicle accident particularly when excessive daytime somnolence occurs.

Constipation↗
PubMed2005

Continuous positive airway pressure for sleep-related breathing disorders in multiple system atrophy: long-term acceptance.

BACKGROUND AND PURPOSE: To assess the long-term acceptance of non-invasive nasal continuous positive air pressure (CPAP) in multiple system atrophy (MSA) patients with polysomnographic (PSG)-confirmed sleep apneas and/or nocturnal stridor. PATIENTS AND METHODS: Sleep-related breathing disorders were investigated by PSG in 22 MSA patients in whom stridor and sleep-related respiratory disturbances were clinically suspected. Patients in whom the first PSG disclosed either a sleep apnea/hypopnea index (AHI)> or =10 or stridor with or without apneas underwent a second PSG for CPAP titration. RESULTS: Three patients presented with an obstructive sleep apnea syndrome without stridor, whereas 15 patients presented stridor occurring alone or accompanied by apneas. Twelve patients pursued CPAP. Two severely disabled patients died a few days after CPAP initiation, and five discontinued CPAP because of discomfort. One patient died after 17 months of follow-up. Since the onset of CPAP, the four remaining patients reported more efficacious sleep and improved daytime alertness. These patients had significantly less severe disease at the time of CPAP initiation. Age, disease duration, the presence of sleep complaints, excessive daytime somnolence (EDS) and AHI did not account for CPAP compliance. CONCLUSION: The severity of motor impairment at the initiation of treatment appears to be the most significant limiting factor for CPAP long-term acceptance.

Aged↗
PubMed2005

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a novel disorder in male carriers of premutations of the fragile X mental retardation 1 gene (FMR1), was recently described. The clinical presentation of FXTAS most closely resembles multiple system atrophy (MSA) because both disorders manifest with cerebellar ataxia, intention tremor, autonomic dysfunction, and parkinsonism. It has been proposed that FXTAS might be a common neurodegenerative disorder. OBJECTIVE: To determine whether FXTAS accounts for patients currently diagnosed as having MSA or a related clinical diagnosis. DESIGN: Patients with MSA or related phenotypes were examined by experienced movement disorders neurologists, and DNA samples were obtained for genetic study. SETTING: Salpêtrière Hospital. PATIENTS: Seventy-seven patients clinically diagnosed as having MSA, 19 as having olivopontocerebellar atrophy, and 27 as having cerebellar ataxia. MAIN OUTCOME MEASURE: The number of FMR1 repeats was determined in all patients by polymerase chain reaction. Alleles above 40 CGG repeats were controlled by Southern blot analysis. RESULTS: Two patients carried FMR1 premutations of 110 and 135 repeats: a man with a familial form of cerebellar ataxia and a woman diagnosed as having MSA-cerebellar type. In addition, 9 patients (7%) carried alleles in the intermediate size range, from 41 to 53 repeats. CONCLUSIONS: We confirm the recent initial description of FXTAS in women. Our data suggest that FXTAS is rare in MSA and indicate that FXTAS might be less prevalent than proposed.

Adult↗
PubMed2005

G2019S LRRK2 mutation in French and North African families with Parkinson's disease.

Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.

Adult↗
PubMed2005

Atypical parkinsonism combining alpha-synuclein inclusions and polyglucosan body disease.

Adult polyglucosan body disease (APGBD) is a rare disorder affecting the central and peripheral nervous systems and in which parkinsonism is unusual. A 71-year-old man presented levodopa-unresponsive parkinsonism with urinary incontinence and recurrent syncopes of 6 years standing masquerading as atypical parkinsonism of the multiple system atrophy (MSA-P) type. Brain histopathology demonstrated massive accumulation of polyglucosan bodies particularly in the putamen. In addition, there were dense alpha-synuclein-positive cytoplasmic oligodendroglial inclusions in the pons and in the middle cerebellar peduncle. These inclusions may be either due to the chance association of MSA-P with APGBD, or pathologically related to APGBD.

Aged↗
PubMed2005

Unusual nocturnal motor restlessness in a patient with spinocerebellar ataxia 3.

Video-polysomnographic monitoring of a female patient with spinocerebellar ataxia 3 (SCA-3) in whom rapid eye movement (REM) sleep behavior disorder was clinically suspected demonstrated recurrent episodes of unusual nocturnal motor restlessness occurring during non-REM sleep and severely disturbing both the patient and her bed partner's sleep. Even if nocturnal manifestations are common features of SCA-3 and increasingly recognized, such a case has never been reported before. We discuss this peculiar movement disorder as a particular manifestation of the wide spectrum of parasomnias occurring in such a rare neurodegenerative disease.

Adult↗
PubMed2005

In vivo models of multiple system atrophy.

Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disorder of unknown etiology clinically characterized by a combination of parkinsonian, pyramidal, and cerebellar signs. Levodopa-unresponsive parkinsonism is present in 80% of MSA cases, and this dominant clinical presentation (MSA-P) is associated with a combined degeneration of the substantia nigra pars compacta and the striatum in anatomically related areas. The limited knowledge of the pathophysiology of MSA and the lack of therapeutic strategies prompted the development of lesion models reproducing striatonigral degeneration, the substrate of levodopa-unresponsive parkinsonism in MSA-P. This method was carried out first in rats with two different stereotaxic strategies using either two neurotoxins ("double toxin-double lesion") or a single neurotoxin ("single toxin-double lesion"). Double-lesioned rat models showed severe motor impairment compared to those with a single nigral or striatal lesion and helped to mimic different stages of the disease. Systemic models were also developed in mice and primates using the nigral toxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and the striatal toxin 3-nitropropionic (3-NP). In mice, although MPTP reduced the subsequent sensitivity to 3-NP in a sequential lesion, simultaneous nigral and striatal insults were shown to exacerbate striatal damage. MPTP-treated monkeys displayed a significant worsening of parkinsonism and a loss of levodopa-responsiveness after the appearance of hindlimb dystonia and striatal lesion formation induced by subsequent 3-NP intoxication. The different species and intoxication paradigms used will be useful to investigate functional changes in substantia nigra and striatum and to define neuroprotective, neurorestorative, or symptomatic therapeutic strategies.

Animals↗
PubMed2005

Progression of parkinsonism in multiple system atrophy.

BACKGROUND: Progression of parkinsonian motor impairment is usually rapid and relentless in multiple system atrophy (MSA). However, it may also be subject to considerable variation. Prospective natural history studies using validated rating scales are required to accurately determine the progression of parkinsonism in MSA. OBJECTIVE: To assess the progression of parkinsonism in patients with the Parkinson variant of MSA. METHODS: Parkinsonian motor impairment was assessed on regular therapy at two time points (mean follow-up 11.8 months, SD 1.4) using the Hoehn and Yahr scale (H&Y), the Schwab and England ADL scale (SES) and the motor examination section of the UPDRS (UPDRS-III) in 38 patients with clinically probable MSA-P. RESULTS: We examined 38 patients with probable MSA-P (mean age 63.2 years, SD 7.4; mean disease duration 4.1 years, SD 3.0). The mean difference of UPDRS-III between baseline and follow-up was 10.8 (95% CI 8.6-12.9), consistent with an average annual 28.3 % increase of UPDRS-III baseline scores. Several variables were associated with faster progression of parkinsonism including low baseline global motor disability as assessed by H&Y and SES, low baseline UPDRS-III score, and short disease duration. UPDRS-III progression was unrelated to gender, age at symptom onset, and age at baseline visit. CONCLUSION: This is the first observational study on UPDRS rates of decline in MSA. The observed 28.6% annual increase of UPDRS-III scores illustrates the rapid progression of motor impairment in MSA. Furthermore, motor progression appeared to be accelerated during the early disease stages. Our data allow sample size calculations that may be helpful for the planning of future therapeutic trials.

Age of Onset↗
PubMed2005

Animal models of multiple system atrophy.

Multiple system atrophy (MSA) is a fatal neurodegenerative disorder presenting with autonomic failure and motor impairment, primarily comprising L-dopa-resistant parkinsonism but occasionally involving cerebellar ataxia. These features result from progressive multisystem neuronal loss that is associated with oligodendroglial alpha-synuclein inclusions. The growing number of animal models for MSA reflects the search for a preclinical test-bed for elucidating MSA pathogenesis and for developing novel therapeutic interventions. Here, the currently available MSA animal models will be reviewed and leads for future research will be identified.

Animals↗
PubMed2005

Effects of subthalamic nucleus deep brain stimulation and levodopa on energy production rate and substrate oxidation in Parkinson's disease.

Patients with Parkinson's disease (PD) often lose weight, but after subthalamic nucleus deep brain stimulation (STN-DBS), they gain weight. We compared daily energy intake (DEI), resting energy expenditure (REE) and substrate oxidation rates (measured by indirect calorimetry) in nineteen STN-DBS-treated patients (Group S), thirteen others on pharmacologic treatment by levodopa (Group L) and eight control subjects. We also determined the acute effects of STN-DBS and levodopa on REE and substrate oxidation rates. STN-DBS treated patients gained 9.7 (SEM 7.1) kg after surgery, whereas patients on pharmacologic treatment lost 3.8 (SEM 10.0) kg since diagnosis. In STN-DBS-treated patients, REE (-16.5 %; P<0.001), lipid oxidation (-27 %; P<0.05) and protein oxidation (-46 %; P<0.05) were decreased, whereas glucose oxidation was elevated (+81 %; P<0.05) as compared to patients on pharmacologic treatment. Levodopa acutely reduced REE (-8.3 %; P<0.05) and glucose oxidation (-37 %; P<0.01) with a slight hyperglycaemic effect (after levodopa challenge: 5.6 (SEM 0.8) v. before levodopa challenge: 5.3 (SEM 0.6) mmol/l; P<0.01). Switching 'on' STN-DBS acutely reduced REE (-17.5 %; P<0.01) and lipid oxidation (-24 %; P<0.001) 30 min after starting stimulation. Fasting glycaemia was slightly but significantly reduced (5.4 (SEM 1.4) v. 5.5 (SEM 1.3) mmol/l; P<0.01). After STN-DBS, the normalization of REE and the reduction in lipid and protein oxidation contribute to the restoration of weight. As levodopa decreases glucose oxidation, the reduction in daily dose of levodopa in STN-DBS-treated patients helps prevent the effect of weight gain on glycaemia.

Antiparkinson Agents↗
PubMed2005

Long-term cure of Tolosa-Hunt syndrome after low-dose focal radiotherapy.

Tolosa-Hunt syndrome (THS) is a rare cause of painful ophtalmoplegia due to chronic granulomatous inflammation of the cavernous sinus. While corticoids are the treatment of reference, corticodependence and corticoresistance are frequent, hence radiotherapy has been proposed as an alternative treatment. We report a case of long-term improvement (8 years) of THS after low-dose (20 Gy) radiotherapy in a patient with recurrences and corticodependence.

Adult↗
PubMed2004

Parkinson's disease patients with bilateral subthalamic deep brain stimulation gain weight.

Weight, body mass index (BMI) and energy expenditure/energy intake (EE/EI) was studied in 19 Parkinson's disease (PD) patients after subthalamic deep brain stimulation (STN-DBS) versus 14 nonoperated ones. Operated patients had a significant weight gain (WG, + 9.7 +/- 7 kg) and BMI increase (+ 4.7 kg/m2). The fat mass was higher after STN-DBS. Resting EE (REE; offdrug/ON stimulation) was significantly decreased in STN-DBS patients, while their daily energy expenditure (DEI) was not significantly different. A significant correlation was found among WG, BMI increase, and pre-operative levodopa-equivalent daily dose, their reduction after STN-DBS, and the differential REE related to stimulation and the REE in the offdrug/OFF stimulation condition. In conclusion, STN-DBS in PD induces a significant WG associated with a reduction in REE without DEI adjustment.

Aged↗
PubMed2004

Distressing belching and neuroacanthocytosis.

We report on an uncommon manifestation of molecularly proven neuroacanthocytosis in a 32-year-old man in whom dyspnea with desaturation while awake accompanied by continuous involuntary belching were the major consequences of the disease.

Adult↗
PubMed2004

Development and validation of the Unified Multiple System Atrophy Rating Scale (UMSARS).

We aimed to develop and validate a novel rating scale for multiple system atrophy (Unified Multiple System Atrophy Rating Scale-UMSARS). The scale comprises the following components: Part I, historical, 12 items; Part II, motor examination, 14 items; Part III, autonomic examination; and Part IV, global disability scale. For validation purposes, 40 MSA patients were assessed in four centers by 4 raters per center (2 senior and 2 junior raters). The raters applied the UMSARS, as well as a range of other scales, including the Unified Parkinson's Disease Rating Scale (UPDRS) and the International Cooperative Ataxia Rating Scale (ICARS). Internal consistency was high for both UMSARS-I (Crohnbach's alpha = 0.84) and UMSARS-II (Crohnbach's alpha = 0.90) sections. The interrater reliability of most of the UMSARS-I and -II items as well as of total UMSARS-I and -II subscores was substantial (k(w) = 0.6-0.8) to excellent (k(w) > 0.8). UMSARS-II correlated well with UPDRS-III and ICARS (rs > 0.8). Depending on the degree of the patient's disability, completion of the entire UMSARS took 30 to 45 minutes. Based on our findings, the UMSARS appears to be a multidimensional, reliable, and valid scale for semiquantitative clinical assessments of MSA patients.

Activities of Daily Living↗