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An unusual case of a spasticity-lacking phenotype with a novel SACS mutation


, : An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. Journal of the Neurological Sciences 255(1-2): 87-89

The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix- Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and sensory nerve conduction velocities with the disease progression. Although the leg spasticity is reported to become progressively worse during the disease and is prevalent in older patients, we first observed that the symptom had disappeared, probably due to the progressive peripheral nerve degeneration in the disease course. Thus, we should analyze the SACS gene even in cases of early-onset cerebellar ataxia without spasticity. The patient had a novel homozygous 2-base pair deletion mutation (c.5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype. A further genotype-phenotype correlation study is required to clarify the molecular mechanism underlying 'sacsinopathies'.

US$19.90

PMID: 17349660

DOI: 10.1016/j.jns.2007.02.002


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Wehmeier, K.R.; Kurban, W.; Chandrasekharan, C.; Onstead-Haas, L.; Mooradian, A.D.; Haas, M.J., 2016: Inhibition of ABCA1 Protein Expression and Cholesterol Efflux by TNF α in MLO-Y4 Osteocytes. Hip fracture and myocardial infarction cause significant morbidity and mortality. In vivo studies raising serum cholesterol levels as well as pro-inflammatory cytokines such as TNF α manifest bone loss and atherosclerotic vascular disease, sugge...

Braren, V.; Bauriedel, J.K.; Jones, W.B.; Goddard, J., 1982: Evaluation of normal and pathologic ureteral dynamics: comparison of a radioisotopic method with ureteral pressure/flow perfusion study. The ureteral pressure/flow perfusion study has lately been repopularized and its use demonstrated in many forms of suspected obstructive uropathy. The present study was undertaken to compare the ureteral pressure/flow perfusion study with a radioi...

Cooper, C.E., 2004: Competitive, reversible, physiological? Inhibition of mitochondrial cytochrome oxidase by nitric oxide. In the mid 1990s a number of research groups recognized that mitochondrial oxygen consumption could be reversibly inhibited by nitric oxide at the level of the enzyme cytochrome c oxidase. The inhibition was apparently competitive with respect to...

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Mathieu, H.; Cuisinier-Gleizes, P.; Debove, F.; Benest, D., 1972: Stimulation of bone resorption by phosphorus deprivation in rats. Archives Francaises de Pediatrie 29(6): 603-608

Sluijter, M., E.; Cosman, E., R.; Rittman, W., B.-Iii; Van-Kleef, M., 1998: The effects of pulsed radiofrequency fields applied to the dorsal root ganglion: A preliminary report. While making a radiofrequency (RF) lesion the tissue which surrounds the tip of the electrode is exposed to an electromagnetic field (EMF). This EMF might be instrumental in causing the clinical effect of RF lesions. This article reports two studi...

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Tanaka, J., 1958: On the stock of Octopus vulgaris Lamarck, on the east coast of Boso Peninsula, Japan. The octopus, is captured by the octopus pot, hand lines or spears. A study was of the stock of this animal, using the statistical data of octopus fisheries. The stock may be composed of two groups, one inhabiting the coast of Boso Peninsula throug...

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