Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

C. Martini, G. Ciana, A. Benettoni, F. Katouzian, G. M. Severini, R. Bussani, Bruno Bembi

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Glycogenosis type 2 is an autosomal recessive glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. Different phenotypes are recognized. The authors describe two children affected by the late infantile form; both presented terminal hyperthermia not caused by infections. Autopsy performed in one case showed diffuse glycogen storage in the CMS neurons. In light of current interest in enzyme replacement therapy, this finding casts some doubt on how effective enzyme replacement therapy will be unless it can be targeted directly into the CMS.

Original languageEnglish
Pages (from-to)906-908
Number of pages3
JournalNeurology
Volume57
Issue number5
Publication statusPublished - Sep 11 2001

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Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Glycogen
Fever
Glucosidases
Autopsy
Phenotype
Neurons
Acids
Infection

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Martini, C., Ciana, G., Benettoni, A., Katouzian, F., Severini, G. M., Bussani, R., & Bembi, B. (2001). Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology, 57(5), 906-908.

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. / Martini, C.; Ciana, G.; Benettoni, A.; Katouzian, F.; Severini, G. M.; Bussani, R.; Bembi, Bruno.

In: Neurology, Vol. 57, No. 5, 11.09.2001, p. 906-908.

Research output: Contribution to journalArticle

Martini, C, Ciana, G, Benettoni, A, Katouzian, F, Severini, GM, Bussani, R & Bembi, B 2001, 'Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2', Neurology, vol. 57, no. 5, pp. 906-908.
Martini C, Ciana G, Benettoni A, Katouzian F, Severini GM, Bussani R et al. Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology. 2001 Sep 11;57(5):906-908.
Martini, C. ; Ciana, G. ; Benettoni, A. ; Katouzian, F. ; Severini, G. M. ; Bussani, R. ; Bembi, Bruno. / Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. In: Neurology. 2001 ; Vol. 57, No. 5. pp. 906-908.
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