Familial ALS
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
... Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits ...
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MCP-1/CCR2 signaling-mediated astrocytosis is accelerated in a transgenic mouse model of SOD1-mutated familial ALS
... and familial ALS patients [14-18] or spinal cord tissue samples from mutant SOD1 trans- genic mice [19,20] have been ...sporadic ALS patients were very low ...of ALS remains to be deter- ...
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SOD1 mutations disrupt redox sensitive Rac regulation of NADPH oxidase in a familial ALS model
... in familial amyotrophic lateral sclerosis (ALS) is associated with enhanced redox stress caused by dominant mutations in superoxide dismutase–1 ...SOD1 ALS mutants, leading to enhanced Rac1/Nox ...
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Translating SOD1 gene silencing towards the clinic: A highly efficacious, off-target free and biomarker-supported strategy for familial ALS
... The lack of paralysis and continued ability of scAAV9_hSOD1si- treated animals to remain ambulant even at end stage is consistent with our observation of increased motor neuron count. Expression of mutant SOD1 in ...
15
Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS)
... with familial Amyotrophic Lateral Sclerosis (ALS) that impairs D-serine metabolism and causes protein aggregation, autophagy and cell death in motor neuron cell ...in ALS but most importantly, we ...
7
Kernohan notch lesion after spinal tap
... with ALS for evidence of anticipation and mitochondrial ...with familial ALS, further analysis demonstrated features of regression to the mean, sug- gesting that the perceived differences are the ...
5
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... with ALS, FTLD or both ...of ALS and FTLD was identified [2, ...with ALS have subsequently been found, albeit less commonly, in FTLD (TARDBP, FUS) and vice versa ...previously familial ...
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Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants
... with familial ALS and ...sporadic ALS. Patients with familial ALS have more TBK1 LoF variants than sporadic ALS patients, probably because they include family members with LoF ...
5
Genotype phenotype relationship in hereditary amyotrophic lateral sclerosis
... Sporadic ALS; FALS: Familial ALS; CNS: Central nervous system; SOD1: Cu/Zn superoxide dismutase; IAHSP: Infantile ascending hereditary spastic paraplegia; JPLS: Juvenile primary lateral sclerosis; ...
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The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
... of familial forms only accounted for a small proportion of ...unexplained familial forms of these common disorders. For ex- ample, about 10% of ALS cases are ...cause familial ALS, ...
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Gabapentin Therapy for Amyotrophic Lateral Sclerosis: Lack of Improvement in Neuronal Integrity Shown by MR Spectroscopy
... with ALS (4) can be reversed with GBP treatment ...in ALS was demonstrated by its ability to prolong survival in a transgenic mouse model of familial ALS ...with ALS, including the ...
5
High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis
... negative ALS families, we detected 2 TARDBP mutations ...in ALS patients from central-southern China and revealed that SOD1 (20%) and FUS ...in familial ALS, but they did not detect any ...
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Familial hypercholesterolemia
... • Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that produces elevations in low-density lipoprotein (LDL) cholesterol. It is an underrecognized and undertreated cause of ...
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Familial paragangliomas
... Paragangliomas have their origin especially in neuroendocrine cells that have chemoreceptors. These cells are localized near the great vessels and mostly they develop in the head and neck region. Common characteristics ...
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Familial hyperglycerolemia
... Studies carried out in vitro using leukocytes prepared from the patient's blood which were incubated with [14C]glycerol demonstrated an almost complete absence of glycerol oxidation to 1[r] ...
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CONGENITAL MYASTHENIA GRAVIS
... No definite statement can be made that myasthenia gravis is hereditary or familial, but this case and those previously reported indicate familial and possible hereditary aspects... A., a[r] ...
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REPORT OF THREE CASES OF IDIOPATHIC FAMILIAL HYPERLIPEMIA: USE OF ACTH AND CORTISONE
... of familial hyperlipemia, namely, familial incidence, lipemia retinalis and increased blood lipids with marked elevation of neutral fat.. Hepatomegaly was present in two of.[r] ...
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The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels
... Background: Previous studies have reported high plasma concentrations of both intestinal apolipoprotein (apo) B- 48-containing lipoproteins and PCSK9 in subjects with familial hypercholesterolemia (FH). However, ...
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Characterization of hepatic low density lipoprotein binding and cholesterol metabolism in normal and homozygous familial hypercholesterolemic subjects
... hypercholesterolemia was 53 and 59% of normal. The activity of the rate-limiting enzyme in cholesterol biosynthesis, 3-hydroxy-3-methylglutaryl coenzyme A reductase was normal; however, the total hepatic cholesterol and ...
9
Hyperlipidemia in Coronary Heart Disease II GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA
... The most common genetic form of hyperlipidemia identified in this study has hitherto been poorly defined and has been designated as familial combined hyperlipidemia. Affected family members characteristically had ...
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