Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy

Internal Medicine

Volumn 46, Issue 11, 2007, Pages 751-756

  Ohta, Yasuyuki ^a   Hayashi, Takeshi ^a   Nagai, Makiko ^a   Okamoto, Miyuki ^a   Nagotani, Shoko ^a   Nagano, Isao ^a   Ohmori, Nobuhiko ^a   Takehisa, Yasushi ^a   Murakami, Tetsuro ^a   Shoji, Mikio ^a   Kamiya, Tatsushi ^a   Abe, Koji ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

Bulbar palsy; Motor neuron disease; MRI; Spinocerebellar ataxia; Tongue atrophy

Indexed keywords

ATAXIN 1; ATAXIN 3; CYSTEINE ETHYL ESTER TC 99M; DNA;

ADULT; ARTICLE; BLOOD ANALYSIS; BULBAR PARALYSIS; CASE REPORT; COMORBIDITY; DNA DETERMINATION; DYSARTHRIA; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FAMILY HISTORY; FEMALE; GAIT DISORDER; HUMAN; MALE; MINI MENTAL STATE EXAMINATION; MOTOR NERVE; MOTOR NEURON DISEASE; MUSCLE BIOPSY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPINOCEREBELLAR DEGENERATION;

BULBAR PALSY, PROGRESSIVE; DNA; ELECTROMYOGRAPHY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUSCULAR ATROPHY; PEDIGREE; SPINOCEREBELLAR ATAXIAS; TONGUE;

EID: 34250162883     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.46.6261     Document Type: Article

References (20)

1. Kameya T, Abe K, Aoki M, et al. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 45: 1587-1594, 1995.
2. Zoghbi HY. Spinocerebellar ataxia type 1. Clin Neurosci 3: 5-11, 1995.
3. Cancel G, Durr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 6: 709-715, 1997.
4. Sasaki H, Wakisaka A, Sanpei K, et al. Phenotype variation correlates with CAG repeat length in SCA2 - a study of 28 Japanese patients. J Neurol Sci 159: 202-208, 1998.
5. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 7: 193-203, 1992.
6. Watanabe M, Abe K, Aoki M, et al. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. J Neurol Sci 136: 101-107, 1996.
7. Kaseda Y, Kawakami H, Matsuyama Z, et al. Spinocerebellar ataxia type 6 in relation to CAG repeat length. Acta Neurol Scand 99: 209-212, 1999.
8. Savoiardo M, Strada L, Girotti F, et al. Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology 174: 693-696, 1990.
9. Gierga K, Burk K, Bauer M, et al. Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2). Acta Neuropathol 109: 617-631, 2005.
10. Ohara S, Tsuyuzaki J, Hayashi R, et al. Motor neuron loss in a patient with spinocerebellar ataxia type 6: chance co-occurrence or causally related?. J Neurol 247: 386-388, 2000.
11. Ohara S, Iwahashi T, Oide T, et al. Spinocerebellar ataxia type 6 with motor neuron loss: a follow-up autopsy report. J Neurol 249: 633-635, 2002.
12. Verhaart WJC. A classified degeneration disease on the central nervous system. Arch Neurol Psychiatry 44: 1262-1270, 1949.
13. Hayashi Y, Nagashima K, Urano Y, Iwata M. Spinocerebellar degeneration with prominent involvement of the motor neuron system: autopsy report of a sporadic case. Acta Neuropathol 70: 82-85, 1986.
14. Murakami N, Yoshida M, Hashizume Y, Muroga T, Takahashi A. A nosological study of a patient showing ataxia & lower motor neuron involvement. Rinsho Shinkeigaku (Clin Neurol) 29: 1116-1121, 1989 (in Japanese, Abstract in English).
15. Suenaga T, Matsushima H, Nakamura S, Akiguchi I, Kimura I. Ubiquitin-immunoreactive inclusions in anterior horn cells and hypoglossal neurons in a case with Joseph's disease. Acta Neuropathol 85: 341-344, 1993.
16. Horiuchi I, Furuya H, Yoshimura T, Kobayashi T, Kusunoki S. A case of severe involvement of the motor neuron system accompanied with cerebellar ataxia. Rinsho Shinkeigaku (Clin Neurol) 37: 123-126, 1997 (in Japanese, Abstract in English).
17. Manabe Y, Shiro Y, Takahashi K, Kashihara K, Abe K. A case of spinocerebellar ataxia accompanied by severe involvement of the motor neuron system. Neurol Res 22: 567-570, 2000.
18. Leigh PN, Whitwell H, Harofalo O, et al. Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain 114: 775-788, 1991.
19. Mizutani T, Satoh J, Morimatsu Y. Neuropathological background of oculomotor disturbances in olivopontocerebellar atrophy with special reference to slow saccade. Clin Neuropathol 7: 53-61, 1988.
20. Murofushi T, Mizuno M, Hayashida T, et al. Neuro-otological and neuropathological findings in two cases with Machado-Joseph disease. Acta Otolaryngol 520: 136-139, 1995.