[Scaphocapitate arthrodesis for chronic scapholunate instability: a retrospective study of 13 cases]. / Etude rétrospective de 13 arthrodèses scaphocapitatum pour instabilité scapholunaire chronique.

The management of chronic instability of the scapholunate joint is controversial. We have opted for scaphocapitate arthrodesis in such cases. The aim of this study was to analyse the clinical and radiological results of this procedure. Between 1997 and 2001, 13 scaphocapitate arthrodesis were performed for this indication. Eleven using two screws, one using a single screw plus a staple, and one using a single staple alone. The average age of the patients was 40 years. There were 8 sport accidents and 5 work accidents. The average follow-up was 26 months. We analysed the functional results and measured the height of the carpus and the radio-lunar angle radiographically. We noticed a mobility loss of between 20 and 40%, especially for radial tilt and flexion. The grip strength was improved. All the patients except one have some residual pain. We noted three non-unions which required revision with eventual final consolidation. The height of the carpus was improved. The average radio-lunar angle at follow-up was 16 degrees. Only one wrist remained in DISI. The mobility of the wrist was decreased by this procedure. In all these cases the dorsal approach to the wrist which we employed was bound to decrease the mobility. The radial tilt was decreased due to the partial arthrodesis. This procedure restore the height of the carpus and partially corrects the DISI. As we were not able to obtain a pain free wrist through our procedure, we raise the question as to whether a total neurectomy of the wrist should be performed at the same time.

[Osteoma osteoid of the trapezoid bone: a case-report and review of the literature]. / Ostéome ostéoïde de l'os trapézoïde: à propos d'un cas et revue de la littérature.

Osteoid osteomas are often localised in long bones but only rarely in the carpus. This is a case report of an osteoid osteoma in the trapezoid. Diagnosis was difficult and established late, due to misleading initial symptoms. Radiological examination allowed localisation of the nidus. For osteoid osteoma localised in a carpal bone, we recommend total removal without bone-graft or arthrodesis.

No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.

Genetic analysis of synphilin-1 in familial Parkinson's disease.

alpha-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in alpha-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with alpha-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.

Memory and executive function in sporadic and familial Parkinson's disease.

Some studies have demonstrated that the motor symptomatology in sporadic and familial Parkinson's disease was identical. From a physiopathological point of view, and perhaps in the future from a therapeutic point of view, it seems important to determine whether sporadic and familial Parkinson's disease are also similar with regard to cognitive impairment. The aim of the present study was to assess cognitive functions in patients suffering from sporadic and familial Parkinson's disease. Executive functions and memory were investigated in particular. Two groups of 12 patients with Parkinson's disease (sporadic and familial) and 12 healthy controls performed a set of tasks known to evaluate different aspects of executive function and memory. One-way analysis of variance tested for significant group effects, and when justified, post hoc analysis was performed. Cognitive impairment was different in sporadic and familial forms of Parkinson's disease. Indeed, although executive function was impaired in both groups of patients, deficits in tests of explicit memory recall were only observed in patients with sporadic Parkinson's disease. Although the impairment observed in both groups of patients suggests a disruption of the striatoprefrontal circuits, this disruption seems to be quantitatively more important and more widespread in the sporadic patients than in the familial ones. In both patient groups, the deficits probably result from dopaminergic and nondopaminergic deprivation and a greater participation of nondopaminergic factors in patients with sporadic Parkinson's disease could be suggested. In this group, a xenobiotic could be responsible for an acquired metabolic defect involving more widespread structures of the striatoprefrontal circuits, leading to disruption of nondopaminergic loops. Cholinergic deprivation is considered in particular.

Linkage exclusion in French families with probable Parkinson' s disease.

We analyzed the segregation of genetic markers spanning chromosomal regions 2p13, 4p14-15, 4q21-23, 6q25-27, and 17q21 in nine French families affected by autosomal-dominant probable Parkinson's disease. These regions have been linked or associated with familial Parkinson's disease. Multipoint linkage and haplotype analyses excluded 2p13 and 4p14-15 loci in five of nine families. For three families, which were equivocal for two-point linkage at D4S405, the ubiquitin carboxy-terminal hydrolase gene (UCH-L1) was sequenced. In one family, a novel UCH-L1 M124L mutation that did not segregate with early-onset disease was identified. This suggests that rare variants in this gene may not be pathogenic. In seven of nine families, it could be inferred that affected individuals did not share 4q21-23 (alpha-synuclein) haplotypes. All families were unequivocally excluded by haplotype analysis from the parkin locus on 6q25-27. Finally, the 17q21 region was excluded in four of nine families, and no mutation in the tau gene was identified in the five remaining families. Findings from this study confirm genetic heterogeneity within familial parkinsonism.

Neuropsychological abnormalities in first degree relatives of patients with familial Parkinson's disease.

OBJECTIVE: To investigate the cognitive profile of first degree relatives of patients with familial Parkinson's disease to determine whether these subjects presented signs of neuropsychological dysfunction compared with healthy controls. Results of recent genetic and neuroimaging studies suggest a genetic contribution to the aetiology of Parkinson's disease and underline the interest in identifying preclinical signs of the disease. METHODS: A battery of tests evaluating executive function was administered to 41 first degree relatives of patients with well documented familial Parkinson's disease and 39 healthy controls. A factorial discriminant analysis allowed isolation of a subgroup of 15 first degree relatives who could be considered as impaired compared with the healthy controls. Among these 15 "deviant" relatives, nine performed globally worse than the control subjects on all tasks. The six other subjects had mean or even high scores on all task variables, except on those highly correlated with the discriminant score of the factorial discriminant analysis. RESULTS AND CONCLUSION: Among the first degree relatives of patients with familial Parkinson's disease, some manifested executive dysfunction comparable with that typically associated with the disease. Such impairment could represent a preclinical form of Parkinson's disease.

No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.

We present 11 families consistent with autosomal dominant inheritance of probable Parkinson's disease (PD). Although excluded as a cause of disease in these kindreds, mutations in the alpha-synuclein gene have been implicated in familial PD. The beta-synuclein gene is highly homologous, expressed in the nervous system and thus is a good candidate gene for PD. Multipoint linkage analysis was either equivocal or excluded 5q35 haplotype sharing among affected family members. Sequencing the translated exons of the beta-synuclein gene failed to identify any pathogenic mutation.

No pathogenic mutations in the persyn gene in Parkinson's disease.

The persyn (gamma-synuclein) gene is highly homologous to the alpha-synuclein gene and is highly expressed in the nervous system. It is therefore, an excellent candidate gene for Parkinson's disease. However, we have sequenced the gene in a large number of families with parkinsonism and failed to find pathogenic mutations.