Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The organ most frequently affected in mitochondrial disorders, particularly respiratory chain diseases (RCDs), in addition to the skeletal muscle, is the central nervous system (CNS). CNS manifestations of RCDs comprise stroke-like episodes, epilepsy, migraine, ataxia, spasticity, movement disorders, psychiatric disorders, cognitive decline, or even dementia (mitochondrial dementia). So far mitochondrial dementia has been reported in MELAS, MERRF, LHON, CPEO, KSS, MNGIE, NARP, Leigh syndrome, and Alpers-Huttenlocher disease. Mitochondrial dementia not only results from mutations in the mitochondrial genome but also from mutations in nuclear genes, such as POLG, thymidine kinase 2, or DDP1. Often mitochondrial dementia starts with specific cognitive deficits, particularly in visual construction, attention, abstraction, or flexibility but without a general intellectual deterioration. Cognitive impairment in RCDs is diagnosed upon neuropsychological testing, imaging studies, such as MRI, PET, or MR-spectroscopy, CSF-investigations, or electroencephalography. Therapy of mitochondrial dementia relies on symptomatic measures. Only single patients profit from cholinesterase inhibitors or memantine, antioxidants, vitamins, coenzyme-Q, or other substitutes. Overall, mitochondrial dementia is an important differential of dementias and should be considered in patients with multi-system disease.
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PMID:Mitochondrial disorders, cognitive impairment and dementia. 1926 75

This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated. It occurs in specific and non-specific MIDs. Among the specific MIDs it has been most frequently described in LBSL, LS, MERRF, KSS, IOSCA, MIRAS, and PCH and only rarely in MELAS, CPEO, and LHON. Clinically, spinal cord involvement manifests as monoparesis, paraparesis, quadruparesis, sensory disturbances, hypotonia, spasticity, urinary or defecation dysfunction, spinal column deformities, or as transverse syndrome. Diagnosing spinal cord involvement in MIDs requires a thoroughly taken history, clinical exam, and imaging studies. Additionally, transcranial magnetic stimulation, somato-sensory-evoked potentials, and cerebro-spinal fluid can be supportive. Treatment is generally not at variance compared to the underlying MID but occasionally surgical stabilisation of the spinal column may be necessary. It is concluded that spinal cord involvement in MIDs is more frequent than anticipated but may be missed if cerebral manifestations prevail. Spinal cord involvement in MIDs may strongly determine the mobility of these patients.
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PMID:Involvement of the Spinal Cord in Mitochondrial Disorders. 2972 77