Parkinson's disease incidence and prevalence assessment in France using the national healthcare insurance database.

BACKGROUND AND PURPOSE: The incidence and prevalence of Parkinson's disease are important for public health planning yet there is a lack of representative, up-to-date estimations for France. METHODS: For this cross-sectional study, subjects with suspected Parkinson's were identified in the EGB database, a 1/97 random sample of the national healthcare insurance database, linked to the national hospital-discharge summary database. Incidence and prevalence were estimated using a specific definition that included those with a diagnosis (hospitalization or listed as a long-term chronic disease for full reimbursement) and a sensitive definition that also included those with an indicative drug reimbursement profile. Estimations were extrapolated to the national population, standardizing on age and gender. RESULTS: According to either the specific or the sensitive definitions, the annual incidence of Parkinson's disease during the study period was respectively 36 and 49 per 100,000 person-years and prevalence in 2010 was 308-410 per 100,000 persons in the population as a whole. According to the age groups 55-64, 65-74, 75-84 and ≥85 years incidence was respectively 33-46, 139-172, 301-363 and 442-560 per 100,000 person-years amongst men and 32-55, 81-117, 203-270 and 251-313 per 100,000 person-years amongst women. The 2010 prevalence stratified by the same age groups was 293-376, 898-1161, 2524-3011 and 3760-4578 per 100,000 persons amongst men and 199-351, 618-889, 1910-2433 and 2504-3263 per 100,000 persons amongst women. CONCLUSIONS: The specific and sensitive definitions of disease bracket the true values; the relatively small range indicates that the current study provides good estimations of incidence and prevalence of Parkinson's disease for recent years in France.

Critical review of non- or minimally invasive methods (duplex ultrasonography, MR- and CT-angiography) for evaluating stenosis of the proximal internal carotid artery.

OBJECTIVE: to assess the performance of non- or minimally invasive methods (duplex ultrasonography, MR- and CT-angiography) in measuring stenosis of the proximal internal carotid prior to endarterectomy without preoperative intra-arterial digital subtraction angiography (DSA). METHODS: systematic review of the literature (five databases, 1990 to February 2001). The value of each imaging technique was studied through its reproducibility and its sensitivity/specificity compared to DSA. RESULTS: sensitivity exceeded 80% and specificity 90% in over two-thirds of the methodologically sound studies, regardless of technique, although direct comparisons between results had to be avoided since the findings originated from different populations. The main drawback of duplex ultrasonography is its levels of reproducibility. In contrast, only a few studies have addressed the reproducibility of MR- and CT-angiography. When the results of duplex and MR-angiography agree, the combination use of these two techniques provides a better diagnosis than either technique taken alone. CONCLUSIONS: all three techniques appear suitable for measuring stenosis of the proximal internal carotid when compared to DSA.

New mutations in the X-linked form of Charcot-Marie-Tooth disease.

Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the Xq13 region. Subsequently, several mutations that could account for CMTX have been detected in the coding part of the connexin32 (Cx32) gene, which is located within this region. In order to develop more specific diagnostic tools, we have begun a systematic screening of families with dominant CMTX for mutations in the coding region of the Cx32 gene. This report describes a study of ten families and different mutations segregating with the disease were detected in five of them. In addition to the previously reported Arg22stop and Arg215Trp substitutions, three novel mutations are described, including two different missense mutations at codon Arg22 (Arg22Pro and Arg22Gly), and a nonsense mutation at codon Trp133. The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.

We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in exon 2, which resulted in substitution of a phenylalanine for serine at amino acid position 63 of PO. This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved.