Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Yann NadjarAna Lucia Hütter-MoncadaPhilippe LatourXavier AyrignacElsa KaphanChristine TranchantPascal CintasAdrian DegardinCyril GoizetChloe LaurencinLionel MartzolffCaroline TiliketeMathieu AnheimBertrand AudoinVincent DeramecourtThierry Dubard De GaillarboisEmmanuel RozeFoudil LamariMarie T VanierBénédicte Héron

Published in: Orphanet journal of rare diseases (2018)

The proportion of adolescent/adult-onset NP-C cases diagnosed in France increased 2.5-fold since 2009 compared with the 2000-2008 period due to improved awareness. Adolescent/adult-onset NP-C frequently presented initially with a non-specific isolated neuro-psychiatric manifestation (motor, cognitive or psychotic). Patients with less severe neurological disability responded better to miglustat therapy.

Keyphrases

mental health
young adults
childhood cancer
multiple sclerosis
bipolar disorder
early onset
stem cells
subarachnoid hemorrhage