Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs

Ryota Sato, M.D.1), Michiaki Koga, M.D., Ph.D.1), Kazuhiro Iwama, M.D., Ph.D.2), Tsuyoshi Mizuguchi, M.D., Ph.D.2), Naomichi Matsumoto, M.D., Ph.D.2) and Takashi Kanda, M.D., Ph.D.1)

1)Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine
2)Department of Human Genetics, Yokohama City University Graduate School of Medicine

Beta-propeller protein-associated neurodegeneration (BPAN) is categorized in Neurodegeneration with brain iron accumulation. The clinical feature of BPAN is global developmental delay in early childhood, followed rapid progression of cognitive disfunction and parkinsonism in adulthood. This case was pointed out intellectual disability at the age of 9, followed left dominant progressive parkinsonism from the age of 31. Brain MRI showed the T1-weighted signal hyperintensity of the substantia nigra with a central band of hypointensity and the T2 star weighted image hypointensity of substantia nigra and globus pallidus presenting dominant at right side. DAT SPECT also showed specific binding ratio decreased dominant in right side. She was diagnosed BPAN based on her genetic test revealing a novel mutation (c.411dupT) in WDR45. No studies reported detailed parkinsonism like laterality in BPAN. This case indicates the left dominant parkinsonism was caused by right dominant iron deposition to substantia nigra and globus pallidus in view of MRI findings and DAT SPECT.
Full Text of this Article in Japanese PDF (561K)

(CLINICA NEUROL, 60: 317|320, 2020)
key words: beta-propeller protein-associated neurodegeneration, WDR45, parkinsonism

(Received: 17-Mar-19)