The neuropsychiatric phenotype associated to hyperprolinemia type I (HPI) is still under debate. To our knowledge, no long-term follow-up on patients with HPI has been reported so far. We previously described clinical, biochemical and molecular features of 4 patients with HPI. Here we report on neuropsychiatric and genotype features of an expanded sample of 10 patients with HPI with a mean follow-up duration of 11 years. Epileptic manifestations and/or cognitive impairment were prevalent at onset , but, they were subsequently replaced by psychiatric disorders. Social behavior and relational skills were the greatly impaired in the majority of cases. Learning disability was present in one patient. The complex neurochemical effects played by proline within the central nervous system and genotype/phenotype correlations were discussed.
LONG-TERM NEUROPSYCHIATRIC FOLLOW-UP IN HYPERPROLINEMIA TYPE 1
DI ROSA, GABRIELLA;NICOTERA, ANTONIO GENNARO;LENZO, PATRIZIA;TORTORELLA, Gaetano
2014-01-01
Abstract
The neuropsychiatric phenotype associated to hyperprolinemia type I (HPI) is still under debate. To our knowledge, no long-term follow-up on patients with HPI has been reported so far. We previously described clinical, biochemical and molecular features of 4 patients with HPI. Here we report on neuropsychiatric and genotype features of an expanded sample of 10 patients with HPI with a mean follow-up duration of 11 years. Epileptic manifestations and/or cognitive impairment were prevalent at onset , but, they were subsequently replaced by psychiatric disorders. Social behavior and relational skills were the greatly impaired in the majority of cases. Learning disability was present in one patient. The complex neurochemical effects played by proline within the central nervous system and genotype/phenotype correlations were discussed.Pubblicazioni consigliate
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