“
“OBJECTIVE: To evaluate unusual possible causes and clinical presentations of hemifacial spasm (HFS).
METHODS: The authors reviewed 1642 cases of HFS. Assessments were based on clinical features, 3-dimensional time-of-flight magnetic resonance angiography, and surgical findings. Causes other than neurovascular compression at the root exit zone of the facial nerve were investigated
and unusual clinical presentations were noted.
RESULTS: Nine (0.5%) patients had a secondary causative structural lesion, 7 patients had a tumor, and the remaining 2 had a vascular malformation. Direct compression by dolichoectatic vertebrobasilar artery was noted in 12 (0.7%) patients. In 7 (0.4%) patients, only the distal portion of the facial nerve was compressed, CH5424802 datasheet and five (0.3%) had only venous compression. Bilateral HFS and tic convulsif were encountered in 7 (0.4%) and 6 (0.37%) patients, respectively. Fifty-six (3.4%) patients were younger than 30 years old at the time of microvascular decompression.
CONCLUSION: HFS can result
from tumor, vascular malformation, and dolichoectatic artery. Therefore, appropriate preoperative radiological investigations are crucial to achieve a correct diagnosis. The authors emphasize that distal ACY-738 datasheet compression or only venous compression can be responsible for persistent or recurrent symptoms postoperatively. In cases of bilateral HFS, a definite differential diagnosis is necessary for appropriate therapy. MVD is recommended as the treatment of choice in patients younger than 30 years old or patients EPZ004777 manufacturer with painful tic convulsif.”
“OBJECTIVE: Germline mutations in
3 genes have been found in familial cases of cerebral cavernous malformations (CCMs). We previously discovered somatic and germline truncating mutations in the KRIT1 gene, supporting the “”2-hit”" mechanism of CCM lesion formation in a single lesion. The purpose of this study was to screen for somatic, nonheritable mutations in 3 more lesions from different patients and identify the cell type(s) in which somatic mutations occur.
METHODS: Somatic mutations were sought in DNA from 3 surgically excised, fresh-frozen CCM lesions by cloning and screening polymerase chain reaction products generated from KRIT1 or PDCD10 coding regions. Laser capture microdissection was used on isolated endothelial and nonendothelial cells to determine whether somatic mutations were found in endothelial cells.
RESULTS: CCM lesions harbor somatic and germline KRIT1 mutations on different chromosomes and are therefore biallelic. Both mutations are predicted to truncate the protein. The KRIT1 somatic mutations (novel c. 1800delG mutation and previously identified 34 nucleotide deletion) in CCMs from 2 different patients were found only in the vascular endothelial cells lining caverns.