Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis (FALS) showing Cys146Arg point mutation of superoxide dismutase 1 (SOD1) gene. They showed differences in disease onset of age, progression and severity. The propositus, a 50-year old woman, had muscle wasting and weakness in right lower leg with dysesthesia at the onset, which showed slow progression without other neurological symptoms until 2 years after the onset when bulbar palsy appeared. She has been alive for 3.5 years after the onset. In contrast, a 61-year old man, elder brother of the propositus, had bulbar palsy at the onset, which showed rapid progression along with muscle weakness and wasting of upper extremities. Two years after the onset, he died due to respiratory failure. Detailed clinical features of FALS with Cys146Arg mutation of SOD1 have not been reported. Our cases suggest that FALS with the same SOD1 mutation could show variable clinical feature and course, and that some factors other than SOD1 mutation should be considered for the pathogenesis of FALS.
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PMID:[Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene]. 1242 72

We report an autopsy case of a 74-year-old man with late onset Charcot-Marie-Tooth disease type 1A (CMT1A) diagnosed by genetic screening, later associated with amyotrophic lateral sclerosis (ALS). At the age of 70 years, the patient was admitted to our hospital because of progressive weakness and dysesthesia in the right upper limb. In the early stages of the illness, he was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and transient improvement was achieved with intravenous immunoglobulin. However, the symptoms progressively worsened and became refractory. Gene analysis revealed PMP22 gene duplication, which confirmed CMT1A. On sural nerve biopsy, severe demyelinating neuropathy and abundant onion-bulb formations with endoneurial infiltration of inflammatory cells were observed. Thereafter, pseudo-bulbar palsy and respiratory muscle weakness developed insidiously and progressed rapidly along with muscle weakness in the limbs and trunk. The patient died about four years after the onset of this disease. Postmortem examination showed moderate neuronal cell loss, Bunina bodies, and TDP-43-positive inclusions in the anterior horn cells. The spinal cord revealed axonal loss and extensive macrophage permeation in the corticospinal tracts. On the basis of these findings, the final neuropathological diagnosis was ALS. This is the first report of an autopsy case of CMT1A complicated with ALS. We here discuss the significant clinical and neuropathological findings of this case.
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PMID:[Autopsy case of a patient with Charcot-Marie-Tooth disease type 1A and suspected chronic inflammatory demyelinating polyradiculoneuropathy, which was later diagnosed as amyotrophic lateral sclerosis]. 2306 25

Nerve excitability measurements are characteristic tests providing informations about the membrane potential and biophysical properties of nerve axons. Recent advances in developing new methods have enabled several such measurements to be made on a nerve quickly, non-invasively, and reproducibly. Modern nerve excitability measurement can give us important informations of some nodal and paranodal sodium and potassium conductances, and it has been applied to clarification of molecular pathophysiology in motor and sensory axons in many diseases. Although nerve excitability measurement is difficult to be applied to the electrophysiological diagnosis of diseases, it has been applied to the electrophysiological therapy evaluations for some motor and sensory symptoms such as muscle clamp or dysesthesia. Furthermore, it is recently reported that it can be utilized as disease survival biomarker in amyotrophic lateral sclerosis. I make a brief review of recent advances in the field of clinical applications of nerve excitability measurements.
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PMID:[The contributions to clinical neurology of the axonal excitability property measurements]. 2319 81