A Severe Case of Dentatorubro-Pallidoluysian Atrophy (DRPLA) with Microcephaly, Very Early Onset of Seizures, and Cerebral White Matter Involvement

Abstract

We report a severe case of Dentatorubro-pallidoluysian atrophy (DRPLA) presenting with microcephaly, developmental delay, severe epilepsy, and progressive mental deterioration with a very early onset of disease. The case is notable for the early detection of white matter changes by brain MRI. Neuroradiological findings from the case were compared to those of previously reported patients with disease onset before 10 years of age.

DRPLA - atrophin-1 - white matter

References

• 1 Burke J R, Wingfield M S, Lewis K E, Roses A D, Lee J E, Hulette C. et al . The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.  Nat Genet. 1994;  7 521-524
• 2 Cox H, Costin-Kelly N M, Ramani P, Whitehouse W P. An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy.  Eur J Paediatr Neurol. 2000;  4 119-123
• 3 Fujii K, Takanashi J, Saito Y, Tamai K, Kondo I, Sugita K. et al . A family of dentatorubral-pallidoluysian atrophy: clinical and neuroradiologic studies.  No To Hattatsu. 1997;  29 298-302
• 4 Hattori H, Higuchi Y, Okuno T, Asato R, Fukumoto M, Kondo I. Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy.  Epilepsia. 1997;  38 271-274
• 5 Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H. et al . Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.  Ann Neurol. 1995;  37 769-775
• 6 Imamura A, Ito R, Tanaka S, Fukutomi O, Shimozawa N, Nishimura M. et al . High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy.  Neuropediatrics. 1994;  25 234-247
• 7 Imamura A, Sugai K, Watanabe S, Hamada F, Kurashige T, Takashima S. High intensity in the globus pallidus on proton and T2-weighted MRI in a case of dentato-ruburo-pallido-luysian atrophy of myoclonus epilepsy type.  Acta Paediatr Jpn. 1994;  36 527-530
• 8 Koide R, Onodera O, Ikeuchi T, Kondo R, Tanaka H, Tokiguchi S. et al . Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings.  Neurology. 1997;  49 1605-1612
• 9 Licht D J, Lynch D R. Juvenile dentatorubral-pallidoluysian atrophy: new clinical features.  Pediatr Neurol. 2002;  26 51-54
• 10 Miyazaki M, Hashimoto T, Yoneda Y, Tayama M, Harada M, Miyoshi H. et al . Proton magnetic resonance spectroscopy on childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA).  Brain Dev. 1996;  18 142-146
• 11 Munoz E, Campdelacreu J, Ferrer I, Rey M J, Cardozo A, Gomez B. et al . Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy.  Arch Neurol. 2004;  61 946-949
• 12 Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M. et al . Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12 p.  Nat Genet. 1994;  6 14-18
• 13 Potter N T. The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.  J Med Genet. 1996;  33 168-170
• 14 Saitoh S, Momoi M Y, Yamagata T, Miyao M, Suwa K. Clinical and electroencephalographic findings in juvenile type DRPLA.  Pediatr Neurol. 1998;  18 265-268
• 15 Smith J K, Gonda V E, Malamud N. Unusual form of cerebellar ataxia; Combined dentato-rubral and pallido-luysian degeneration.  Neurology. 1958;  8 205-209
• 16 Ueno S, Kondoh K, Kotani Y, Komure O, Kuno S, Kawai J. et al . Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA).  Hum Mol Genet. 1995;  4 663-666
• 17 Uyama E, Kondo I, Uchino M, Fukushima T, Murayama N, Kuwano A. et al . Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family.  J Neurol Sci. 1995;  130 146-153
• 18 Warner T T, Williams L, Harding A E. DRPLA in Europe.  Nat Genet. 1994;  6 225
• 19 Warner T T, Williams L D, Walker R W, Flinter F, Robb S A, Bundey S E. et al . A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families.  Ann Neurol. 1995;  37 452-459
• 20 Yamada M, Wood J D, Shimohata T, Hayashi S, Tsuji S, Ross C A. et al . Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy.  Ann Neurol. 2001;  49 14-23