Two sisters were diagnosed in their adulthood with aromatic L-amino aciddecarboxylase (AADC) deficiency (OMIM#608643). They experienced earlymyasthenia-like manifestations, myoclonic jerks, oculogyric crises, tremors, and developmental delay during childhood; clinical stabilization afterwards; andspontaneous improvement during adolescence and young adulthood. Two novelpathogenic mutations on DDC gene [p.Tyr37Thrfs*5 (c.105delC) and p.F237S(c.710 T>C)] were associated with undetectable enzyme activity in plasma and onlya mild reduction of biogenic amines in cerebrospinal fluid (CSF). The increase ofboth 3-O-methyldopa and 5-hydroxytryptophan on CSF was the most relevantbiochemical alteration denoting AADC defect in these subjects. Transdermalrotigotine remarkably improved their gross motor functions and the asthenicstatus they complained. The present cases broaden the phenotypic spectrum of AADCdeficiency and suggest that (1) AADC defect is not a progressive neurologicaldisease and behaves rather as a neurodevelopmental disorder that improves during the second decade of life; (2) treatment-naïve adults can still respond well toneurotransmitter therapy; and (3) the possibility of a mild presentation of AADC deficiency should be considered when examining young adults with asthenic andparkinsonian symptoms.
|Titolo:||Report of Two Never Treated Adult Sisters with Aromatic L-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?|
|Data di pubblicazione:||2015|
|Appare nelle tipologie:||1.1 Articolo in rivista|