pearson syndrome and neuropathy, ataxia and retinitis pigmentosa (narp)
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چکیده
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منابع مشابه
Neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome
Keywords Disease name and synonyms Diagnostic criteria/definition Differential diagnosis Etiology Clinical description Diagnostic methods Genetic counseling Prenatal diagnosis Management Unresolved questions References Abstract The syndrome of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is clinically heterogeneous but it is often characterized by a combination of sensory-motor neuropath...
متن کاملA novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinit...
متن کاملRetinitis pigmentosa, ataxia, and peripheral neuropathy.
The clinical features of four patients with retinitis pigmentosa, ataxia and peripheral neuropathy but with no increase in serum phytanic acid are reported. Three patients also had sensorineural deafness and radiological evidence of cerebellar atrophy. Nerve conduction studies revealed abnormalities of sensory conduction and normal or only mild slowing of motor conduction velocity. Sural nerve ...
متن کاملLow dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation
Little is known regarding the management of psychotic disorders in NARP syndrome. We report the case of a 30 year-old Caucasian male, born from healthy unrelated parents. During his first year, he presented cerebellar ataxia with pyramidal syndrome. Sequencing his leukocyte and urinary mtDNA detected a heteroplasmicmutation (95%) in the MTATP6 gene (m.8993TNC) [1]. At 28 years, he presented a p...
متن کامل[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].
We report a patient having classical clinical feature of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and a novel mutation, m.8729 G>A in mitochondria DNA. The patient was referred to our hospital because of progressive ataxia in her limbs and trunk. She had a history of incapability of running long distances from childhood. Neurological examination revealed cerebellar at...
متن کاملCurrent Perspectives of Mitochondrial Dysfunction and Associated Diseases
Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۷، شماره ۴، صفحات ۲۰-۲۱
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