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1981 1
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Page 1
Mitochondriopathies.
Finsterer J. Finsterer J. Eur J Neurol. 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. Eur J Neurol. 2004. PMID: 15009163 Review.
Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyra …
Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucence …
Mitochondrial encephalomyopathies.
Lombes A, Bonilla E, Dimauro S. Lombes A, et al. Rev Neurol (Paris). 1989;145(10):671-89. Rev Neurol (Paris). 1989. PMID: 2682927 Review.
Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our knowledge and understanding of these diseases is progressing rapidly. ...The various morphological abnormalities of mitochondr …
Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our …
Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease).
Finsterer J, Scorza FA. Finsterer J, et al. Clin Neurol Neurosurg. 2019 Sep;184:105426. doi: 10.1016/j.clineuro.2019.105426. Epub 2019 Jul 20. Clin Neurol Neurosurg. 2019. PMID: 31351215 Review.
Spinal and bulbar (bulbospinal) muscular atrophy (BSMA, SBMA, Kennedy's disease) is a progressive motor neuron disease with rare involvement of structures other than the lower motor neuron, such as the endocrine system and the central nervous sy …
Spinal and bulbar (bulbospinal) muscular atrophy (BSMA, SBMA, Kennedy's disease) is a progressive motor neuron …
Defects of mitochondrial DNA.
Zeviani M, Antozzi C. Zeviani M, et al. Brain Pathol. 1992 Apr;2(2):121-32. doi: 10.1111/j.1750-3639.1992.tb00680.x. Brain Pathol. 1992. PMID: 1341953 Review.
MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or "pure" encephalopathies with no gross morphological abnormalities in muscle. The first group inclu …
MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibre …
Acute encephalitis with refractory, repetitive partial seizures.
Sakuma H. Sakuma H. Brain Dev. 2009 Aug;31(7):510-4. doi: 10.1016/j.braindev.2009.02.010. Epub 2009 Mar 26. Brain Dev. 2009. PMID: 19327924 Review.
Electroencephalograms in active stage demonstrate electrical seizure activities and interictal periodic discharges. Magnetic resonance imaging reveals late cerebral atrophy with limited signal abnormality. Persistent fever during active stage, cerebrospinal fluid (C …
Electroencephalograms in active stage demonstrate electrical seizure activities and interictal periodic discharges. Magnetic resonance imagi …
Mitochondrial encephalomyopathies.
Eymard B, Hauw JJ. Eymard B, et al. Curr Opin Neurol Neurosurg. 1992 Dec;5(6):909-16. Curr Opin Neurol Neurosurg. 1992. PMID: 1467585 Review.
In addition, the link between the defect in oxidative phosphorylation (OXPHOS) in the brain and the specific neuropathological pattern is unclear. A better knowledge of nuclear mutations in mitochondriopathies and of the interactions between nuclear and mitochondrial genom …
In addition, the link between the defect in oxidative phosphorylation (OXPHOS) in the brain and the specific neuropathological patter …
[A new type of complicated form of hereditary spastic paraplegia showing mental deterioration, quadriplegia with muscular atrophy, sensory disturbance, extrapyramidal disorders, and epilepsy].
Iwabuchi K, Yagishita S, Amano N, Kosaka K. Iwabuchi K, et al. Rinsho Shinkeigaku. 1991 Sep;31(9):945-52. Rinsho Shinkeigaku. 1991. PMID: 1769157 Review. Japanese.
At the age of high 20's, they became unable to walk, because of progressive spastic paraplegia and other complicated neurological impairments including pyramidal disorders in the upper limbs, generalized neurogenic muscular atrophy, sensory disturbance and br …
At the age of high 20's, they became unable to walk, because of progressive spastic paraplegia and other complicated neurological imp …
Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology.
Barontini F, Papini M. Barontini F, et al. Riv Patol Nerv Ment. 1981 Jul-Aug;101(4):171-84. Riv Patol Nerv Ment. 1981. PMID: 6789439 Review.
Histological examination of the CNS in the girl revealed a diffuse neuroaxonal dystrophy, some areas of spongy degeneration in the cerebral and cerebellar white matter, cortical atrophy of cerebellum accompanied by demyelination of the spinocerebellar tracts, the fa …
Histological examination of the CNS in the girl revealed a diffuse neuroaxonal dystrophy, some areas of spongy degeneration in the cerebr …
[Neuropathology of polyglutamine diseases].
Yamada M, Takahashi H. Yamada M, et al. No To Shinkei. 2003 Nov;55(11):921-30. No To Shinkei. 2003. PMID: 14727532 Review. Japanese. No abstract available.