Neuro-Bechet`s Disease: A clinical review.

OBJECTIVE: To assess the neurological complications of Behcet`s disease among Jordanian patients, and to relate these complications with the presence of antiphospholipid antibodies. METHODS: Twenty-two patients with Neuro-Behcet`s disease admitted to King Hussein Medical Center, Amman, Jordan between January 1997 and August 1999, were evaluated clinically and by neuroimaging techniques. There were 17 males (77%), 5 females (23%), with a mean age of 36 years (range 18-51). Antiphospholipid antibodies were tested in all the patients. RESULTS: Brain infarcts were seen in 18 cases; 12 in the anterior fossa, 6 in the posterior fossa, and 2 patients had spinal cord ischemia. Five patients had sinus thrombosis; 4 in the superior sagittal sinus, one in the sigmoid sinus, all were proved by magnetic resonance venogram. All patients were tested for antiphospholipid antibodies and showed negative results. CONCLUSION: Brain infarcts are the most common neurological complications of Behcet`s disease, less common is sinus thrombosis, and we found no link between these complications and the presence of antiphosphplipid antibodies.

Distal hereditary motor neuronopathy of the Jerash type.

A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

OBJECTIVE: To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p. BACKGROUND: A total of 37 patients belonging to 13 CMS families, 9 of them consanguineous, were investigated. All patients were linked previously to the telomeric region of chromosome 17p. Two candidate genes in this region encode synaptobrevin 2, a presynaptic protein, and the epsilon-subunit of the acetylcholine receptor (AChR). Direct sequencing of the synaptobrevin 2 gene revealed no mutations. The authors thus searched for mutations in the epsilon-subunit gene of AChR. METHODS: Direct sequencing of the AChR epsilon-subunit, restriction analysis, allele-specific PCR, and expression studies in human embryonic kidney cells were performed. RESULTS: The authors identified two previously characterized and five novel epsilon-subunit gene mutations, all homozygous, in the 13 kinships. Two of the novel mutations are truncating (epsilon723delC and epsilon760ins8), one is a missense mutation in the signal peptide region (epsilonV-13D), one is a missense mutation in the N-terminal extracellular domain (epsilonT51P), and one is a splice donor site mutation in intron 10 (epsilonIVS10+2T-->G). Unaffected family members have no mutations or are heterozygous. Expression studies indicate that the four novel mutations in the coding region of the gene and the most likely transcript of the splice-site mutation, which skips exon 10, are low-expressor or null mutations. CONCLUSIONS: Chromosome 17p-linked congenital myasthenic syndromes are caused by low-expressor/null mutations in the AChR epsilon-subunit gene. Mutations in this gene are a common cause of CMS in eastern Mediterranean countries.

Distal Hereditary Motor Neuronopathy of the Jerash Type.

A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.