Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

Johnson, Peter; Melbourne-Chambers, R; Desai, Nilesh; Greenaway, Emma

doi:10.1155/2014/858056

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…The PANK2 gene, present in the mitochondria and the nucleus, is located on chromosome 20p13 and spans approximately 34 kb with 7 exons. [3,[8][9][10] The PANK2 gene encodes an important regulatory enzyme (consisting of 571-amino acids) among four pantothenate kinase enzymes that are targeted to mitochondria of CoA biosynthesis. The formation of CoA is essential for energy metabolism, fatty acid synthesis, degradation, and synthesis of many neurotransmitters as well as glutathione, an antioxidant that prevents cell damage caused by reactive oxygen species.…”

Section: Pantothenatementioning

confidence: 99%

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

Tran,

Vu,

Tran

et al. 2023

Medicine

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Rationale: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a rare autosomal recessive disease associated with brain iron accumulation and characterized by progressive dystonia, dementia, and dysarthria symptoms. PKAN, caused by a defective pantothenate kinase 2 (PANK2) gene, is the most common neurodegeneration with a brain iron accumulation (NBIA) group. The “eye of the tiger” sign in the magnetic resonance imaging demonstrated a bilateral hyperintense signal in the basal ganglia region on T2-weighted images, which is a characteristic feature of the diagnosis. PKAN is classified into 2 main types. The early-onset type (classic type) with rapid progression is characterized by symptoms of gait impairment and dystonia leading to loss of ambulation in early childhood. In the later-onset type (atypical type), slow progression usually takes place in the second decade of life with symptoms of neurodegeneration, dystonia, dysarthria, rigidity, choreoathetosis, and motor impairment. Until now, PKAN patients have only been reported in a few countries in Asia such as China, Korea, India, Iran, Taiwan, and Thailand. Patient concerns: Here we report the first case of PKAN in Vietnam. The patient had a late onset but the disease progresses rapidly with symptoms of dyskinesia, dysphagia, and difficulty speaking. Diagnoses: Pantothenate kinase-associated neurodegeneration. Interventions: Whole exome sequencing was performed to identify heterozygous mutations in the PANK2 gene (NM_153638.4) (c.856C>T, p.Arg286Cys and c.1351C>T, p.Arg451Ter) that has been confirmed as the cause of the disease. Outcomes: In this study, the first Vietnamese patient with late-onset PKAN was diagnosed by the whole exome sequencing method. Lessons: The patient’s case marks an important milestone for the first case in Vietnam. The results of the study will provide a scientific basis for clinicians in the diagnosis and genetic counseling of patients.

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Section: Pantothenatementioning

confidence: 99%

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

Tran,

Vu,

Tran

et al. 2023

Medicine

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“…PKAN is usually classified as an inborn error of mitochondrial CoA biosynthesis from pantothenic acid associated with nucleotide variation(s) in ubiquitously expressed mitochondrial hPanK2 protein (EC 2.7.1.33) encoding PANK2 gene (20p13-p12.3; OMIM# 606157) that encodes a 1.85 kb long transcript having 7 exons 1 , 2 , 5 , 21 , 22 . hPanK2 catalyzes the first rate-limiting step, that is, ATP-dependent phosphorylation of pantothenic acid to 4′-phosphopantothenate, of the universal biosynthesis pathway of CoA 1 .…”

Section: Introductionmentioning

confidence: 99%

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

Angural

Singh

Mahajan

et al. 2017

Sci Rep

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Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents. The patients present with early-onset, progressive extrapyramidal dysfunction, and brain Magnetic Resonance imaging (MRI) suggestive of symmetrical iron deposition in the globus pallidi. Screening the PANK2 gene in the patients as well as their unaffected family members revealed a functional single nucleotide variation, perfectly segregating in the patient’s family in an autosomal recessive mode of inheritance. We also provide the results of in-silico analyses, predicting the functional consequence of the identified PANK2 variant.

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HALLERVORDEN SPATZ SYNDROME- Autosomal recessive neurodegenerative disorder

Laique¹

2022

Radiopaedia.org

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Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

Cited by 3 publications

References 4 publications

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

HALLERVORDEN SPATZ SYNDROME- Autosomal recessive neurodegenerative disorder

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