Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

S. Salvi, F. M. Santorelli, E. Bertini, R. Boldrini, C. Meli, A. Donati, A. B. Burlina, C. Rizzo, M. Di Capua, G. Fariello, Carlo Dionisi-Vici

Research output: Contribution to journalArticle

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Abstract

The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The most consistent neurologic finding was spastic paraparesis, seen in five of the eight patients. However, all showed signs of pyramidal tract involvement. A broad spectrum of pathogenetic mutations (including missense, nonsense, splice site, insertion, and deletions) were identified in the ORNT1 gene.

Original languageEnglish
Pages (from-to)911-914
Number of pages4
JournalNeurology
Volume57
Issue number5
Publication statusPublished - Sep 11 2001

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Spastic Paraparesis
Pyramidal Tracts
Missense Mutation
Neurologic Manifestations
Genes
HHH syndrome

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. / Salvi, S.; Santorelli, F. M.; Bertini, E.; Boldrini, R.; Meli, C.; Donati, A.; Burlina, A. B.; Rizzo, C.; Di Capua, M.; Fariello, G.; Dionisi-Vici, Carlo.

In: Neurology, Vol. 57, No. 5, 11.09.2001, p. 911-914.

Research output: Contribution to journalArticle

Salvi, S, Santorelli, FM, Bertini, E, Boldrini, R, Meli, C, Donati, A, Burlina, AB, Rizzo, C, Di Capua, M, Fariello, G & Dionisi-Vici, C 2001, 'Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome', Neurology, vol. 57, no. 5, pp. 911-914.
Salvi, S. ; Santorelli, F. M. ; Bertini, E. ; Boldrini, R. ; Meli, C. ; Donati, A. ; Burlina, A. B. ; Rizzo, C. ; Di Capua, M. ; Fariello, G. ; Dionisi-Vici, Carlo. / Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. In: Neurology. 2001 ; Vol. 57, No. 5. pp. 911-914.
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