The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

  title={The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration},
  author={Maria Teresa Pellecchia and Enza Maria Valente and Laura Cif and Sergio Salvi and Alberto Albanese and Valentina Scarano and Ubaldo Bonuccelli and Anna Rita Bentivoglio and Alessandra D’Amico and Cecilia Marelli and Annalisa di Giorgio and Philippe Coubes and Paolo Barone and Bruno Dallapiccola},
  pages={1810 - 1812}
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette… 

A Novel PANK2 Gene Mutation: Clinical and Molecular Characteristics of Patients—Short Communication

The authors present 3 patients with proven molecular diagnosis of PKAN, in whom 2 novel mutations of PANK2 gene have been identified.

Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration

A case of atypical PKAN presenting with generalized dystonia, whose patient had compound heterozygous mutations in the PANK2 gene, including mutation in exon 3 ( p.D268G) and exon 4 (p.R330P).

Pantothenate Kinase-Associated Neurodegeneration

Typical clinical features that comprise dystonia, spasticity, retinitis pigmentosa, and pallidal hypointensities with a central area (eye of the tiger sign) on magnetic resonance imaging may be the diagnostic clue.

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature

ABSTRACT Panthothenate kinase-associated neurodegeneration (PKAN) is arare neurodegeneration caused by mutations in the pantothenate kinase (PANK2) gene, which is located on chromosome 20p13. These

Pantothenate - kinase associated neurodegeneration.

A case of 18 year old boy with progressive dementia, pyramidal and extrapyramidal involvement, dysarthria, seizures and myoclonus, diagnosed as PKAN (formerly Hallervorden Spatz disease) after "eye of tiger" appearance on neuro-imaging.

Pantothenate kinase–associated neurodegeneration

  • M. Kruer
  • Biology
    Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
  • 2020

Molecular Analysis of PANK2 Gene in Two Thai Classic Pantothenate Kinase- Associated Neurodegeneration (PKAN) Patients

This study demonstrates the clinical and genetic characteristics of classic PKAN in two Thai patients with typical features of progressive dystonia and an “eye-of-the-tiger” signal on their brain MRIs.

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (formerly called HallervordenSpatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (formerly called HallervordenSpatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with



A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

It is shown that HSS is caused by a defect in a novel pantothenate kinase gene and a mechanism for oxidative stress in the pathophysiology of the disease is proposed.

Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration

The findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia–thalamocortical circuits, which was associated with depression and aggressive behavior in Patient 1 whereas Patient 2 had hyperactivity, disinhibition, and euphoria.

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase–associated neurodegeneration is the name . . .

Purpose of review After the recent discovery of the major genetic defect in neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome), this heterogeneous group of

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Patients with atypical disease who had PANK2 mutations were more likely to have prominent speech-related and psychiatric symptoms than patients with classic disease or mutation-negative patients with attypical disease.

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

The phenotypic heterogeneity observed in patients supports the notion of genetic heterogeneity in the HSS/NBIA syndrome and compares the clinical features and MRI findings of those with and without PANK2 mutations.

Pure akinesia: An unusual phenotype of Hallervorden‐Spatz syndrome

This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult‐onset pure akinesia syndromes.

Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis

Genetic analyses of the pantothenate kinase gene (PANK2) revealed two novel, disease‐causing exon 3 missense mutations (Cys231Ser and Tyr251Cys) and broadens the genotypic and phenotypic spectrum of HSS to include a late-onset syndrome resembling bulbar‐onset ALS.

Hallervorden‐Spatz syndrome resembling a typical Tourette syndrome

A young man presenting with a Tourette syndrome‐like disorder that was the main clinical manifestation of Hallervorden‐Spatz syndrome is described. It is recommended that, even in the case of slow

Hallervorden-Spatz disease: MR and pathologic findings.

Comparison of MR findings with the pathologic studies demonstrates that the low signal intensity in T2-weighted images at 1.5 T corresponds to iron deposits in a dense tissue, and that the high signal intensity of the eye-of-the-tiger sign corresponds to an area of loose tissue with vacuolization.