[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. / Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients.

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.

[Emergency neurology consultations in the university hospital setting: contribution of the neurologist to inpatient management]. / Consultations de neurologie en urgence dans un centre hospitalier universitaire: apport du neurologue dans la prise en charge du patient.

While outpatient management for chronic neurological diseases is well-established, the impact of inpatient neurological examination in emergency room and university hospital remain largely underestimated. We prospectively studied the role of the neurologist in patient management, in a primary care university hospital. Over a period of 12 months, we prospectively recorded the demographics of patients requiring examination in the emergency room, the initial suspected neurological diagnosis of the emergency room, the final diagnosis of the neurology team, and the patients' outcomes. For each patient, the time between admission, the call and the neurological examination were recorded. Neurological examinations were performed in 2220 patients in whom 75.6 p.100 were performed in the emergency room. These latter patients corresponded to 14 p.100 of all patients admitted in the emergency room. Of examined patients, 52 p.100 were male and mean age was 56.9 +/- 21 years. The time between admission and examination was 32 min. (+/- 36 min), irrespective of the day of the week, and depended on the suspected diagnosis: shorter in stroke and status epilepticus (p<0.05), and longer in loss of consciousness and vertigo (p<0.01). Forty-four percent of the examinations took place in the evening and night. The reasons for examinations were: stroke (28.3 p.100), epilepsy (17.7 p.100), headaches (8.4 p.100), loss of consciousness (7.9 p.100), cognitive dysfunctions (4.1 p.100), neuropathies (4 p.100) and miscellaneous (8.1 p.100). Neurological examinations modified neurological diagnosis and treatment in more than 86 p.100 of the patients. Following neurological examination, 17.2 p.100 of the patients were able to go home, while the rest were admitted to the stroke unit (27.2 p.100), the general neurological unit (27.3 p.100) or in other departments (28.3 p.100), of which intensive care unit (5.3 p.100) or neurosurgery (5.9 p.100). Emergency neurologic examination improves neurological diagnosis and has a positive impact both on treatment and, more globally, in patient management.