Abstract
BACKGROUND—Striatal necrosis has been related to various clinical syndromes, with acute or chronic progression, and juvenile or late occurrence, but the most common type is Leigh's encephalopathy. METHODS—Between 1967 and 1995, six out of seven related patients with chronic familial dystonia were examined. MRIs were performed in four, between 1992-1994. The seven members, affected over three generations, were the father, three daughters (one surviving), and three surviving grandsons. RESULTS—The leading symptoms were gait disorders and dystonia in all, dysarthria in six, verbal and motor stereotypies in two, and parkinsonian and cerebellar signs in three. Optic neuropathy was found in three. A frontal lobe syndrome without amnesia occurred in two. Symptoms occurred between the second and the fifth decade, with progressive deterioration. Magnetic resonance imaging, performed in four, showed in the two patients with severe neurological signs diffuse striatopallidal abnormal hyposignal (comparable with CSF signal) in T1 weighted images, suggesting extensive necrosis of the striatum and pallidum, associated with thalamo-subthalamo-rubro-dentato-nigral and substantia innominata hypersignals in T2 weighted images suggesting gliosis in these respective areas. The same images were described to a lesser extent in a third patient. Concentrations of lactate in CSF and serum were normal in three. Muscle biopsy, performed in four, was shown to be normal. Enzyme histochemistry showed complex I, III, and IV deficiency in surviving patients. CONCLUSION—This familial dystonia of chronic progression may be related to basal ganglia necrosis or gliosis, associated with alterations in the respiratory chain. These metabolic alterations probably play a part in the pathophysiology of these unusual brain lesions.
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- Beal M. F., Henshaw D. R., Jenkins B. G., Rosen B. R., Schulz J. B. Coenzyme Q10 and nicotinamide block striatal lesions produced by the mitochondrial toxin malonate. Ann Neurol. 1994 Dec;36(6):882–888. doi: 10.1002/ana.410360613. [DOI] [PubMed] [Google Scholar]
- Berkovic S. F., Karpati G., Carpenter S., Lang A. E. Progressive dystonia with bilateral putaminal hypodensities. Arch Neurol. 1987 Nov;44(11):1184–1187. doi: 10.1001/archneur.1987.00520230064016. [DOI] [PubMed] [Google Scholar]
- Bruyn G. W., Vielvoye G. J., Went L. N. Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. J Neurol Sci. 1991 Jun;103(2):195–202. doi: 10.1016/0022-510x(91)90164-3. [DOI] [PubMed] [Google Scholar]
- Buschke H., Fuld P. A. Evaluating storage, retention, and retrieval in disordered memory and learning. Neurology. 1974 Nov;24(11):1019–1025. doi: 10.1212/wnl.24.11.1019. [DOI] [PubMed] [Google Scholar]
- Cardebat D., Doyon B., Puel M., Goulet P., Joanette Y. Evocation lexicale formelle et sémantique chez des sujets normaux. Performances et dynamiques de production en fonction du sexe, de l'âge et du niveau d'étude. Acta Neurol Belg. 1990;90(4):207–217. [PubMed] [Google Scholar]
- D'Alessandro R., Tinuper P., Lozito A., Sacquegna T., Cortelli P., Pazzaglia P. CT scan in a case of progressive generalized dystonia with amyotrophic paraplegia. Ital J Neurol Sci. 1983 Sep;4(3):335–337. doi: 10.1007/BF02043488. [DOI] [PubMed] [Google Scholar]
- Davous P., Khoubesserian P., Tric P., Telerman-Toppet N. Encéphalopathie mitochondriale avec atteinte exclusive du système nerveux central. Rev Neurol (Paris) 1991;147(6-7):538–541. [PubMed] [Google Scholar]
- DiMauro S., Bonilla E., Zeviani M., Nakagawa M., DeVivo D. C. Mitochondrial myopathies. Ann Neurol. 1985 Jun;17(6):521–538. doi: 10.1002/ana.410170602. [DOI] [PubMed] [Google Scholar]
- Donnet A., Guinot H., Pellissier J. F., Desnuelle C., Cozzone P., Bouchacourt M., Khalil R. Dystonie segmentaire et encéphalomyopathie mitochondriale. Rev Neurol (Paris) 1992;148(1):51–53. [PubMed] [Google Scholar]
- Estournet B., Duyckaerts C., Marsac C., Chabbi N., Bataille J., Barois A., Hauw J. J., Goulon M. Encéphalopathie mitochondriale familiale. Etude clinicopathologique. Rev Neurol (Paris) 1991;147(6-7):491–496. [PubMed] [Google Scholar]
- Folstein M. F., Folstein S. E., McHugh P. R. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975 Nov;12(3):189–198. doi: 10.1016/0022-3956(75)90026-6. [DOI] [PubMed] [Google Scholar]
- Fukuhara N., Tokiguchi S., Shirakawa K., Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci. 1980 Jul;47(1):117–133. doi: 10.1016/0022-510x(80)90031-3. [DOI] [PubMed] [Google Scholar]
- GARCIN R., GRUNER J., GODLEWSKI S. Spongiose disséminée de l'encéphale evoluant cliniquement par poussées chez un enfant malgache; ses rapports éventuels avec l'encéphalopathie subaiguë de Wernicke. Rev Neurol (Paris) 1956 Oct;95(4):273–283. [PubMed] [Google Scholar]
- Gray F., Eizenbaum J. F., Gherardi R., Degos J. D., Poirier J. Luyso-pallido-nigral atrophy and amyotrophic lateral sclerosis. Acta Neuropathol. 1985;66(1):78–82. doi: 10.1007/BF00698300. [DOI] [PubMed] [Google Scholar]
- Kissel J. T., Kolkin S., Chakeres D., Boesel C., Weiss K. Magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh's disease). Arch Neurol. 1987 May;44(5):563–566. doi: 10.1001/archneur.1987.00520170089030. [DOI] [PubMed] [Google Scholar]
- Kosaka K., Oyanagi S., Matsushita M., Hori A., Iwase S. Multiple system degeneration and involving thalamus, reticular formation, pallido-nigral, pallido-luysian and dentato-rubral systems. A case report. Acta Neuropathol. 1977 Jul 15;39(1):89–95. doi: 10.1007/BF00690390. [DOI] [PubMed] [Google Scholar]
- Leuzzi V., Bertini E., De Negri A. M., Gallucci M., Garavaglia B. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):16–19. doi: 10.1136/jnnp.55.1.16. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lombes A., Bonilla E., Dimauro S. Mitochondrial encephalomyopathies. Rev Neurol (Paris) 1989;145(10):671–689. [PubMed] [Google Scholar]
- MILLER G. A. The magical number seven plus or minus two: some limits on our capacity for processing information. Psychol Rev. 1956 Mar;63(2):81–97. [PubMed] [Google Scholar]
- Marsden C. D., Lang A. E., Quinn N. P., McDonald W. I., Abdallat A., Nimri S. Familial dystonia and visual failure with striatal CT lucencies. J Neurol Neurosurg Psychiatry. 1986 May;49(5):500–509. doi: 10.1136/jnnp.49.5.500. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Miyoshi K., Matsuoka T., Mizushima S. Familial holotopistic striatal necrosis. Acta Neuropathol. 1969;13(3):240–249. doi: 10.1007/BF00690644. [DOI] [PubMed] [Google Scholar]
- NEUMANN M. A. Combined degeneration of globus pallidus and dentate nucleus and their projections. Neurology. 1959 Jun;9(6):430–438. doi: 10.1212/wnl.9.6.430. [DOI] [PubMed] [Google Scholar]
- Nelson H. E. A modified card sorting test sensitive to frontal lobe defects. Cortex. 1976 Dec;12(4):313–324. doi: 10.1016/s0010-9452(76)80035-4. [DOI] [PubMed] [Google Scholar]
- Nelson I., Hanna M. G., Alsanjari N., Scaravilli F., Morgan-Hughes J. A., Harding A. E. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol. 1995 Mar;37(3):400–403. doi: 10.1002/ana.410370317. [DOI] [PubMed] [Google Scholar]
- Nikoskelainen E. K., Marttila R. J., Huoponen K., Juvonen V., Lamminen T., Sonninen P., Savontaus M. L. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):160–164. doi: 10.1136/jnnp.59.2.160. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Novotny E. J., Jr, Singh G., Wallace D. C., Dorfman L. J., Louis A., Sogg R. L., Steinman L. Leber's disease and dystonia: a mitochondrial disease. Neurology. 1986 Aug;36(8):1053–1060. doi: 10.1212/wnl.36.8.1053. [DOI] [PubMed] [Google Scholar]
- Rondot P., de Recondo J., Davous P., Fredy D., Roux F. X. Rigidité extra-pyramidale avec dystonie, atrophie optique et atteinte bilatérale du putamen chez un adolescent. Forme juvénile de la maladie de Leigh. Rev Neurol (Paris) 1982;138(2):143–148. [PubMed] [Google Scholar]
- Schapira A. H., Mann V. M., Cooper J. M., Dexter D., Daniel S. E., Jenner P., Clark J. B., Marsden C. D. Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease. J Neurochem. 1990 Dec;55(6):2142–2145. doi: 10.1111/j.1471-4159.1990.tb05809.x. [DOI] [PubMed] [Google Scholar]
- Schulz J. B., Beal M. F. Mitochondrial dysfunction in movement disorders. Curr Opin Neurol. 1994 Aug;7(4):333–339. doi: 10.1097/00019052-199408000-00010. [DOI] [PubMed] [Google Scholar]
- Shoffner J. M. Mitochondrial defects in basal ganglia diseases. Curr Opin Neurol. 1995 Dec;8(6):474–479. doi: 10.1097/00019052-199512000-00015. [DOI] [PubMed] [Google Scholar]
- Thyagarajan D., Shanske S., Vazquez-Memije M., De Vivo D., DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol. 1995 Sep;38(3):468–472. doi: 10.1002/ana.410380321. [DOI] [PubMed] [Google Scholar]
- Truong D. D., Harding A. E., Scaravilli F., Smith S. J., Morgan-Hughes J. A., Marsden C. D. Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies. Mov Disord. 1990;5(2):109–117. doi: 10.1002/mds.870050204. [DOI] [PubMed] [Google Scholar]