Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
نویسندگان
چکیده
منابع مشابه
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy.
AIMS To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber's hereditary optic neuropathy (LHON). METHODS Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ND1 LHON were...
متن کاملMitochondrial myopathy with chronic progressive external ophthalmoplegia.
Introduction Mitochondrial diseases are a diverse group with multisystem involvement caused by structural, biochemical or genetic derangement of mitochondria. Cerebral neurones and myocytes which require a high yield of energy are particularly vulnerable to mitochondrial dysfunction and neuromuscular manifestations are common in mitochodrial disorders. We report two cases of mitochondrial myopa...
متن کاملMitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus
RATIONALE Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis...
متن کاملSCIENTIFIC REPORT Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber’s hereditary optic neuropathy
Aims: To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber’s hereditary optic neuropathy (LHON). Methods: Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ ND1 LHON wer...
متن کاملNovel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300. Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease. The spectrum of clinical manifestations in POLG-related mitochondrial disease is variable, with disease onset ranging from adulthood-onset dominant or...
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ژورنال
عنوان ژورنال: Brain
سال: 1996
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/119.3.997