Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations

Mohammad Rohani; Alfonso Fasano; Fahimeh Haji Akhoundi; Ghazal Haeri; Anthony E Lang; Mohammad Masoud Rahimi Bidgoli; Leila Javanparast; Babak Zamani; Gholamali Shahidi; Afagh Alavi

doi:10.1016/j.parkreldis.2018.11.012

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations

Parkinsonism Relat Disord. 2019 Apr:61:231-233. doi: 10.1016/j.parkreldis.2018.11.012. Epub 2018 Nov 13.

Affiliations

¹ Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
² Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Research Institute, Toronto, Ontario, Canada.
³ Department of Neurology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
⁴ Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
⁵ Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran; Department of Neurology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
⁶ Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: afaghalavi@gmail.com.

PMID: 30455156
DOI: 10.1016/j.parkreldis.2018.11.012

No abstract available

Keywords: Beta propeller protein associated neurodegeneration; Neurodegeneration with brain iron accumulation; Static encephalopathy of childhood with neurodegeneration in adulthood; Transcranial sonography; WDR45 gene.

Publication types

Case Reports
Letter

MeSH terms

Adult
Carrier Proteins / genetics
Female
Humans
Iran
Iron Metabolism Disorders / diagnosis*
Iron Metabolism Disorders / genetics
Iron Metabolism Disorders / pathology
Iron Metabolism Disorders / physiopathology
Magnetic Resonance Imaging
Neuroaxonal Dystrophies / diagnosis*
Neuroaxonal Dystrophies / genetics
Neuroaxonal Dystrophies / pathology
Neuroaxonal Dystrophies / physiopathology
Ultrasonography, Doppler, Transcranial
Young Adult

Substances

Carrier Proteins
WDR45 protein, human

Supplementary concepts

Neurodegeneration with brain iron accumulation (NBIA)