Friedreich's ataxia is a rare hereditary neurodegenerative disease caused by a defect in the gene that encodes a mitochondrial protein called frataxin. We report the use of rocuronium 0.6 mg kg(-1) in two adolescent girls with Friedreich's ataxia undergoing propofol-sufentanil-oxygen-air anaesthesia for spinal surgery. Neuromuscular transmission was monitored using acceleromyography, and onset ...

Gastrointestinal tumor is a common malignancy that dangerous to human health. Some of the patients exhibit familial hereditary syndromes; however, molecular genetics gastrointestinal tumors remain unclear. Here, Chinese family including 21 people was investigated. Among them, three cases were respectively diagnosed with gastric cancer, colon and liver cancer; one case cystic ovarian. Whole-exom...

OBJECTIVE To assess the frequency and clinical features of different types of hereditary spinocerebellar ataxia in Hong Kong. DESIGN Cross-sectional study using a questionnaire and clinical examination, with the majority of the information retrospectively collected. SETTING Three regional hospitals, Hong Kong. PARTICIPANTS All patients with spinocerebellar ataxia that was confirmed by mol...

Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. In five of s...

The authors review the most important contributions of Pierre Marie to the elucidation and description of several neurological diseases, such as Charcot-Marie-Tooth's disease and hereditary cerebellar ataxia, as well as his contributions to Internal Medicine, including his pioneering studies on acromegaly, ankylosing spondylitis, and hypertrophic pulmonary osteoarthropathy. His works led to inc...

A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial...

Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...

Sensitisation to brain antigen was demonstrated in eight of 24 clinically normal first generation children in a family with hereditary ataxia. This ratio is consistent with that expected in a dominantly inherited condition. It suggests that immunological reactivity may precede the clinical expression of disease, with important implications for presymptomatic diagnosis and for pathogenesis of de...

DNA single-strand break repair (SSBR) is critical for the survival and genetic stability of mammalian cells. Three papers have recently associated mutations in putative human SSBR genes with hereditary spinocerebellar ataxia. The emerging links between SSBR and neurodegenerative disorders are discussed.

Letter Mutations in genes involved in singlestrand break repair (SSBR) have been linked to hereditary cerebellar ataxias. Notably, Ataxia-oculomotor apraxia 1 (AOA1 (MIM: 2 08 920)), Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1 (MIM: 6 07 250)) and Ataxia-oculomotor apraxia 4 (AOA4 (MIM: 616267616267616267)) are associated with mutations in APTX (MIM: 606350), TDP1 (MIM: 607198) and P...