MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: A clinical, genetic, and pathological study

Acta Neuropathologica

Volumn 97, Issue 5, 1999, Pages 520-524

  Tsuchiya, K ^a,b   Miyazaki, H ^c   Akabane, H ^c   Yamamoto, M ^d   Kondo, H ^b   Mizusawa, H ^d   Ikeda, K ^b  

^a TOKYO METROPOLITAN MATSUZAWA HOSPITAL   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c YOKOSUKA KYOSAI HOSPITAL   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Atrophy of cerebellar granular layer; MELAS; Neuropathology; White matter gliosis

Indexed keywords

MITOCHONDRIAL DNA; NUCLEOTIDE;

ADULT; AMYGDALOID NUCLEUS; ARTICLE; ATAXIA; AUTOPSY; BRAIN ATROPHY; BRAIN DISEASE; BRAIN NECROSIS; CASE REPORT; CEREBELLUM; CLINICAL FEATURE; CONVULSION; DEMENTIA; DIABETES MELLITUS; FEMALE; GLIOSIS; HEARING IMPAIRMENT; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPAN; LACTIC ACIDOSIS; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEUROPATHOLOGY; POINT MUTATION; PRIORITY JOURNAL; WHITE MATTER;

ADULT; ATROPHY; BRAIN; CEREBELLUM; FEMALE; GLIOSIS; HUMANS; MELAS SYNDROME;

EID: 0032941953     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010051023     Document Type: Article

References (26)

1. Bogousslavsky J, Parentes E, Deruaz JP, Regli F (1982) Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts. J Neurol Sci 55: 351-357
2. Brownell B, Oppenheimer DR (1965) An ataxic form of subacute presenile polioencephalopathy (Creutzfeldt-Jakob disease). J Neurol Neurosurg Psychiatry 28:350-361
3. Fine DIM, Barron KD, Hirano A (1960) Central nervous system lipidosis in an adult with atrophy of the cerebellar granular layer. A case report. J Neuropathol Exp Neurol 19:355-369
4. Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T (1980) Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 47:117-133
5. Gilchrist JM, Sikirica M, Stopa E, Shanske S (1996) Adult-on-set MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes. Stroke 27:1420-1423
6. Leu(UUR) geen associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651-653
7. Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 42:545-550
8. Gropen TI, Prohovnik I, Tatemichi TK, Hirano M (1994) Cerebral hyperemia in MELAS. Stroke 25:1873-1876
9. Hart ZH, Chung C-H, Perrin EVD, Neerunjun JS, Ayyar R (1977) Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Arch Neurol 34:180-185
10. Hirano M, Paviakis SG (1994) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol 9:4-13
11. Hunter D, Russell DS (1954) Focal cerebral and cerebellar atrophy in a human subject due to organic mercury compounds. J Neurol Neurosurg Psychiatry 17:235-241
12. Kaido M, Fujimura H, Soga F, Toyooka K, Yoshikawa H, Nishimura T, Higashi T, Inui K, Imanishi H, Yorifuji S, Yanagihara T (1996) Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Acta Neuropathol 92:312-318
13. Kishi M, Yamamura Y, Kurihara T, Fukuhara N, Tsuruta K, Matsukura S, Hayashi T, Nakagawa M, Kuriyama M (1988) An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain. J Neurol Sci 86:31-40
14. Matsushita M, Oyanagi S, Hanawa S, Shiraki H, Kosaka K (1981) Nasu-Hakola's disease (membranous lipodystrophy). A case report. Acta Neuropathol (Bert) 54:89-93
15. Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29:764-779
16. Mizukami K, Sasaki M, Suzuki T, Shiraishi H, Koizumi J, Ohkoshi N, Ogata T, Mori N, Ban S, Kosaka K (1992) Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. Acta Neuropathol 83: 449-452
17. Mizutani T, Amano N, Sasaki H, Morimatsu Y, Mori H, Yoshimura M, Yamanouchi H, Hayakawa K, Shimada H (1990) Senile dementia of Alzheimer type characterized by laminar neuronal loss exclusively in the hippocampus, parahippocampus and medial occipitotemporal cortex. Acta Neuropathol 80:575-580
18. Mukoyama M, Kazui H, Sunohara N, Yoshida M, Nonaka I, Satoyoshi E (1986) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. J Neurol 233: 228-232
19. Neumann MA, Cohn R (1967) Progressive subcortical gliosis, a rare form of presenile dementia. Brain 90:405-418
20. Norman RM (1940) Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life. Brain 63:365-379
21. Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M, Miyatake T (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 74:226-233
22. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:481-488
23. Sarnat HB, Alcalá H (1980) Human cerebellar hypoplasia. A syndrome of diverse causes. Arch Neurol 37:300-305
24. Shiraki H (1979) Neuropathological aspects of organic mercury intoxication, including Minamata disease. Handb Clin Neurol 36:83-145
25. Tsuchiya K, Nakayama T, Sato K, Kodera M, Akabane H, Yagishita S (1995) An autopsy case of ataxic form of Creutzfeldt-Jakob disease (C-J D) with localized cerebellar cortical lesion; with special reference to the clinicopathological correlation between cerebellar sign and distribution of cerebellar cortical lesion in ataxic form of C-J D (in Japanese with English abstract). Dementia 9:82-91
26. Van Bogaert L (1945) Une Leuco-encéphalite sclérosante subaigue. J Neurol Neurosurg Psychiatry 8:101-120