Clinical characterization of tremor in patients with phenylketonuria
Autor: | Vincenzo Leuzzi, Francesca Nardecchia, Filippo Manti, Claudia Carducci, Sabrina Leo |
---|---|
Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
Adult
Male 0301 basic medicine Phe Adolescent Phenylalanine hydroxylase Endocrinology Diabetes and Metabolism Population Physiology 030105 genetics & heredity PKU Fahn-Tolosa-Marin tremor rating scale Prolactin Tremor Biochemistry Young Adult 03 medical and health sciences 0302 clinical medicine Endocrinology Dopamine Phenylketonurias Fahn-Tolosa-Marin tremor rating scale Genetics medicine Humans Longitudinal Studies Child Kinetic tremor education Molecular Biology education.field_of_study Essential tremor biology business.industry Phenylalanine Hydroxylase Middle Aged medicine.disease Cross-Sectional Studies Concomitant PKU Anticipation (genetics) biology.protein Female business Biomarkers 030217 neurology & neurosurgery medicine.drug |
Popis: | Background Phenylketonuria (PKU) is due to the deficit of the enzyme phenylalanine hydroxylase, the first step of dopamine synthesis. If not early treated the disease results in severe neurological impairment. Minor neurological signs have been reported in early treated PKU (ETPKU) subjects. Prolactin level is affected by (and reflects) brain dopamine availability. Object of the study was to assess the occurrence, age at onset, distribution, associated neurological signs, and possible pathogenetic biomarkers of tremor in ETPKU. Methods Fifty-nine ETPKU and 43 control subjects (age range 7–54) underwent individual and familiar tremor history, clinical assessment of tremor by means of the Fahn-Tolosa-Marin Tremor Rating Scale, and IQ evaluation. Historical and concomitant biochemical data (blood levels of Phe) and serum prolactin were included in the analysis. Results Thirty-two percent of ETPKU patients were affected by postural and kinetic tremor. We found a significant correlation between severity of tremor and: prolactin level at the day of examination (part A: rs = 0.320; p = .014; part C: rs = 0.319; p = .014), Phe fluctuations from 12 years onwards (part B: rs = 0.300; p = .036). We also found a significant correlation between prolactin (18.2 ± 9.6 ng/ml) and Phe levels (852 ± 472 μmol/l) on the day of assessment (rs = 0.470; p Conclusions The main clinical features of tremor in ETPKU evoke those of essential tremor, although with a higher prevalence and an earlier onset than in general population. The severity of tremor was related to concomitant prolactin rather than Phe levels. This pattern suggests that metabolic alterations associated with PKU may result in an anticipation of the tremor onset in subjects who are possibly prone to this disorder. |
Databáze: | OpenAIRE |
Externí odkaz: |