Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion.

Objectives: To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence.

Prevalence and proposal for cost-effective management of the ciguatera risk in the Noumea fish market, New Caledonia (South Pacific).

Ciguatera fish poisoning (CFP) is a common intoxication associated with the consumption of reef fish, which constitutes a critical issue for public health in many countries. The complexity of its epidemiology is responsible for the poor management of the risk in tropical fish markets. We used the example of the Noumea fish market in New Caledonia to develop a cost-effective methodology of assessing the CFP risk.

Necrotizing myopathy with pipestem capillaries and minimal cellular infiltration: a case associated with cutaneous signs of dermatomyositis.

In 1991, Emslie-Smith and Engel described a distinct form of idiopathic inflammatory myopathy they called "necrotizing myopathy with pipestem capillaries, microvascular deposition of the complement membrane attack complex (MAC) and minimal cellular infiltration." We describe a patient with exercise-dependent painful myopathy related to a necrotizing myopathy with pipestem capillaries in whom mild cutaneous signs of dermatomyositis were detected 7 years after onset and who subsequently developed multiple cerebral infarcts.

[Right hemiplegia and spatial neglect with apraxia and agraphia without aphasia in a right-handed patient].

A 65 year-old right-handed woman was admitted after the sudden onset of a right dense hemiplegia. C.T.

[Alcock's canal syndrome and perineal neuralgia].

Fifteen cases of perineal neuralgia are reviewed, the lesion arising from a canal syndrome due to compression of the pudendal nerve in the ischiorectal fossa (Alcock's canal syndrome). The clinical characteristic of the pain syndrome was its postural nature with the existence of a true Tinel sign (increased pain on sitting). Diagnosis was confirmed in all cases by a perineal electrophysiological which showed peripheral neurogenic signs on examination of perineal muscles and an increase in sacral evoked potentials latencies (latency of bulbocavernous or clitorido-anal reflexes, cortical somesthetic evoked potential from pudendal nerve).