7 / 19
Page 48
Notes:
Journal of Alzheimers Disease & Parkinsonism | ISSN: 2161-0460 | Volume: 8
October 19-20, 2018 | New York, USA
5
th
International Conference on
Parkinson’s disease and Movement Disorders
Genotype and phenotype analysis of two unrelated patients with Beta-Propeller protein-Associated
Neurodegeneration (
BPAN
)
Afagh Alavi
Tehran University of Medical Sciences, Iran
B
eta-propeller protein-associated neurodegeneration (
BPAN
) is a type of neurodegeneration with brain iron accumulation
(NBIA) disorders.
BPAN
is characterized by developmental delay, intellectual disability, seizures, absent to limited
expressive language, ataxia, Parkinsonism, dystonia and abnormal behaviors like autism spectrum disorder. Mutations
of
WDR45
gene cause
BPAN
. This gene encodes a member of the WD-repeat protein family that plays an important role
in autophagy. Two unrelated Iranian patients were diagnosed as
BPAN
. First, DNAs were extracted from peripheral blood
leukocytes. Subsequently, thirteen exons and flanking intronic sequences of
WDR45
were amplified by PCR and sequenced.
Variations were assessed by comparison with reference sequences available at NCBI. Patient-1 was a 24-year-old woman who
presented with the progressive slowness of movements, episodes of generalized tonic-clonic seizures, developmental delay, the
absence of expressive language, and severe psychomotor retardation. Neurologic examination revealed a coarse and masked
face, hypokinesia and rigidity of limbs, mild dystonia of right foot and severe postural instability. Her brain MRI showed mild
iron deposition in pallidum and significant in substantia-nigra with a hallo-sign on the T1-weighted sequence. Patient-2 was
a 39-year-old woman who manifested mental problems and mild right hemiparesis since early childhood, progressive slowing
of movements starting 6-7 years before, gait freezing, difficulty in arising from chair and depression. Neurologic examination
revealed masked face, slow saccades, hypokinesia and rigidity of extremities, shuffling gait and decreased arm swings. Her
brain MRI was similar to patient-1 except for normal globus pallidus and moderate frontotemporal atrophy. Results of the
genetic analysis showed two different de novo heterozygous variations (a splice site and an insertion) in
WDR45
in both
patients. It seems these variations affect interactions of the encoded proteins with autophagy proteins. Further analysis is
needed to confirm the pathogenic effect of these variations.
Biography
Afagh Alavi has completed her MSc, and PhD studies at University of Tehran. She is an assistant professor in the University of Social Welfare and Rehabilitation
Sciences currently. She has published more than 17 papers in reputed journals.
afaghalavi@gmail.comAfagh Alavi, J Alzheimers Dis Parkinsonism 2018, Volume 8
DOI: 10.4172/2161-0460-C6-052