References 1. Courchesne E, Yeung-Courchesne R, Press GA, et al. Hypoplasia of cerebellar vermal lobules VI md VII in autism. N Engl J Med 1988;318:1349-1354 2. Mirakanii JW, Courchesne E, Press GA. et al. Keduced cerehellar hemisphere size and its relationship to neural hypoplasia in autism. Arch Neurol 1989;46:689-694 3 . Courchesne E. Neuroanatomic imaging in autism. Pediatrics 1991;87:781-790 4. Courchesne E, Saitoh 0. Yeung-Courchesne R, et al. Abnormality of crrebellar vernii;in lobules V1 and VII in patients with infantile autism: identification of hypoplastic and hyperplasric subgroups with MR imaging. Am J Radio1 1994;162:123-130 5. Ritvo ER, Garber HJ. Cerebellar hypoplasia and autism. N Engl J Med 1988;3 19: 1 152 6. Kleiman MD, Neff S. liosinan NP. The brain in infantile autism: are posterior fotsa structures abnormal? Neurology 1992: 42:753-760 7. Piven J. Nehme E. Simon J, et RI. Magnetic resonance imaging in autism: measurement of the cerebellum. pons, and fourth ventriclr. Biol Psychiatry 1992;31:491-504 8. Schaefer GB. Thompson J N Jr. Bodensteiner JB. et al. Agerelated changes in rhe relative growth of the posterior fossa. J Child
Multiple system atrophy (MSA) is a clinico-pathological entity distinct from idiopathic Parkinson's disease (PD) that is responsible for 5-10% of cases of parkinsonism. Degeneration of nigral neurones is a feature of both diseases. A specific deficiency of mitochondrial complex I activity has been found in PD substantia nigra. We have analysed mitochondrial function in substantia nigra and platelets from MSA patients to identify any respiratory chain defect in this disorder and to determine its tissue specificity. As our MSA patients had been on L-DOPA, we also sought to establish whether this treatment could cause the complex I defect as seen in PD. We found no significant difference in respiratory chain activity corrected for mitochondrial mass between control and MSA patients in either of the tissues studied. These results provide a biochemical dimension to the differences between MSA and idiopathic PD. In addition, the fact that L-DOPA failed to induce a complex I defect in MSA substantia nigra suggests that this treatment is unlikely to cause the complex I deficiency in PD, without additional factors that may operate in PD.
A significant proportion of patients with inborn errors of the mitochondrial respiratory chain exhibit movement disorders, particularly dystonia. Point mutations of mitochondrial DNA (mtDNA) are usually expressed systemically, and defects of platelet respiratory chain function have been described in patients with mtDNA mutations and Leber's hereditary optic neuropathy (LHON). Recent reports have documented families with dystonia in association with LHON and mtDNA complex I gene mutations. We have examined mitochondrial function in platelet mitochondria from patients with familial generalized dystonia (linked or not linked to 9q34) and sporadic focal dystonia. We confirm a previous report of a specific complex I defect in patients with sporadic focal dystonia but could not find any abnormality in patients with familial generalized dystonia, linked or not to 9q34. These results support the existence of a mitochondrial deficiency in sporadic focal dystonia and provide a biochemical dimension to the clinical and genetic distinction between focal and generalized familial dystonia.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.