Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Amyotrophic lateral sclerosis with ragged-red fibers Hirano M; Angelini C; Montagna P; Hays AP; Tanji K; Mitsumoto H; Gordon PH; Naini AB; DiMauro S; Rowland LPArch Neurol 2008[Mar]; 65 (3): 403-6BACKGROUND: Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects. OBJECTIVES: To describe a patient with typical ALS and the finding of ragged-red fibers in muscle biopsy specimens and to review the literature on respiratory chain defects in ALS and SMA. DESIGN: Case report and review of the literature. SETTING: Collaboration between tertiary care academic hospitals. PATIENT: A 65-year-old man with typical ALS. MAIN OUTCOME MEASURES: The patient had 10% ragged-red fibers and 3% cytochrome-c oxidase-negative fibers in muscle biopsy specimens but no biochemical defects of respiratory chain enzymes or alterations of mitochondrial DNA (mtDNA). RESULTS: Amyotrophic lateral sclerosis with ragged-red fibers has been reported in 5 families and is associated with mtDNA mutations in some subjects. Spinal muscular atrophy without mutations in the survival motor neuron gene (SMN; OMIM 600354) has been associated with mtDNA depletion or with mutations in the cytochrome-c oxidase assembly gene (SCO2; OMIM 604377). CONCLUSION: Respiratory chain defects can mimic ALS or SMA and should be considered in the differential diagnosis.|Aged[MESH]|Amyotrophic Lateral Sclerosis/genetics/*pathology[MESH]|Biopsy/methods[MESH]|Carrier Proteins[MESH]|Cyclic AMP Response Element-Binding Protein/genetics[MESH]|Cytochrome-c Oxidase Deficiency/complications[MESH]|DNA Mutational Analysis/methods[MESH]|DNA, Mitochondrial[MESH]|Electron Transport Complex IV/metabolism[MESH]|Gene Deletion[MESH]|Humans[MESH]|Male[MESH]|Mitochondrial Proteins[MESH]|Molecular Chaperones[MESH]|Muscle Fibers, Fast-Twitch/*pathology[MESH]|Mutation/genetics[MESH]|Nerve Tissue Proteins/genetics[MESH]|RNA-Binding Proteins/genetics[MESH]|SMN Complex Proteins[MESH] |
