Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration

Saeedi, Yasaman; Kazemi, Foad; Habibi, Seyed Amir Hassan; Tafakhori, Abbas; Chitsaz, Ahmad; Fasano, Alfonso; Lang, Anthony E.; Rohani, Mohammad

doi:10.1016/j.pediatrneurol.2019.06.004

Cited by 5 publications

(2 citation statements)

References 4 publications

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“…Extrapyramidal dysfunction, corticospinal tract signs, and retinitis pigmentosa are also described, but they are less prevalent than in the classic form [ 2 , 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration

Choayb

Adil

Mohamed

et al. 2021

Case Reports in Radiology

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Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.

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“…Extrapyramidal dysfunction, corticospinal tract signs, and retinitis pigmentosa are also described, but they are less prevalent than in the classic form [ 2 , 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration

Choayb

Adil

Mohamed

et al. 2021

Case Reports in Radiology

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“…Respectively, there were 23, 5, 3, 1, 3, 3, and one family with PKAN, MPAN, PLAN, JABELS, BPAN, Kufor-Rakeb and WSSs in Iran (Figure 4). 74,[91][92][93][94][95][96][97][98][99][100][101][102][103][104][105][106][107][108][109] Like the other countries, the most common form of NBIA was PKAN accounting for more than half of the cases (59%) (Figure 4). A high percentage of the PKAN may be due to the easy diagnostics procedures; the specific pattern on MRI, which is the "eye of tiger" sign.…”

Section: Nbia In Iranmentioning

confidence: 99%

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran

Hajati

Emamikhah

Fard

et al. 2021

Can. J. Neurol. Sci.

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Neurodegeneration with brain iron accumulation (NBIA) is a term used for a group of hereditary neurological disorders with abnormal accumulation of iron in basal ganglia. It is clinically and genetically heterogeneous with symptoms such as dystonia, dysarthria, Parkinsonism, intellectual disability, and spasticity. The age at onset and rate of progression are variable among individuals. Current therapies are exclusively symptomatic and unable to hinder the disease progression. Approximately 16 genes have been identified and affiliated to such condition with different functions such as iron metabolism (only two genes: Ferritin Light Chain (FTL) Ceruloplasmin (CP)), lipid metabolism, lysosomal functions, and autophagy process, but some functions have remained unknown so far. Subgroups of NBIA are categorized based on the mutant genes. Although in the last 10 years, the development of whole-exome sequencing (WES) technology has promoted the identification of disease-causing genes, there seem to be some unknown genes and our knowledge about the molecular aspects and pathogenesis of NBIA is not complete yet. There is currently no comprehensive study about the NBIA in Iran; however, one of the latest discovered NBIA genes, GTP-binding protein 2 (GTPBP2), has been identified in an Iranian family, and there are some patients who have genetically remained unknown.

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