title: Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.
abstract: Niemann-Pick disease type C is a rare neurodegenerative disorder with autosomal recessive inheritance that can be broadly categorized into different forms dependent on age at disease onset: pre-/perinatal, early infantile, late infantile, juvenile, and adolescent/adult. This study was conducted to define the age at onset, clinical manifestations, neuroimaging findings and response to treatment in 21 patients diagnosed with Niemann-Pick disease type C and managed in the neurology departments of hospitals in Tehran, Iran. The effects of miglustat on patient ambulation, fine and gross motor function, swallowing, hearing, speech, seizures, psychomotor development, and ocular movements were evaluated for up to 26 months of treatment. Ambulation, fine and gross motor movements, swallowing, speech, and supranuclear gaze palsy were generally stabilized during therapy, and psychomotor delay appeared to be improved in early- and late-infantile onset patients. However, miglustat had no effect on organomegaly or other systemic manifestations of the disease. Miglustat was well tolerated.
authors.affiliation: 1Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.forename: Seyed Hassan
authors.initials: SH
authors.lastname: Tonekaboni
authors.forename: Mahmoud Reza
authors.initials: MR
authors.lastname: Ashrafi
authors.forename: Yousef
authors.initials: Y
authors.lastname: Shafeghati
authors.forename: Alireza
authors.initials: A
authors.lastname: Rezayi
authors.forename: Shadab
authors.initials: S
authors.lastname: Salehpour
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ghofrani
authors.forename: Mohammad Mehdi
authors.initials: MM
authors.lastname: Taghdiri
authors.forename: Ali
authors.initials: A
authors.lastname: Rahmanifar
authors.forename: Talieh
authors.initials: T
authors.lastname: Zaman
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.forename: Babak Najaf
authors.initials: BN
authors.lastname: Shoar
authors.forename: Farideh
authors.initials: F
authors.lastname: Shiva
authors.forename: Alireza
authors.initials: A
authors.lastname: Tavasoli
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D009422:Nervous System Diseases / Q000188:drug therapy* / Q000209:etiology*; D052556:Niemann-Pick Disease, Type C / Q000150:complications* / Q000188:drug therapy; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D004791:Enzyme Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat
keywords: Niemann–Pick disease type C; efficacy; miglustat