Pigmentary pallidal degeneration

disorder

SNOMED 2992000CUI C0018523

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Neurodegeneration, Pantothenate Kinase-Associated" from the MEDLINE/PubMed database.

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Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.

[object Object], [object Object], [object Object] et al. · Can J Neurol Sci · 2023

PMID: 35067244Meta-Analysis

Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.

[object Object], [object Object], [object Object] et al. · CNS Neurosci Ther · 2020

PMID: 32043823Meta-AnalysisFull text (PMC)

Deep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis.

[object Object], [object Object], [object Object] et al. · Mov Disord · 2019

PMID: 30633810Meta-Analysis

Diffusion tensor MR imaging in children with pantothenate kinase-associated neurodegeneration with brain iron accumulation and their siblings.

[object Object], [object Object], [object Object] et al. · AJNR Am J Neuroradiol · 2010

PMID: 19850762RCTFull text (PMC)

Metabolic impairments in neurodegeneration with brain iron accumulation.

[object Object], [object Object], [object Object] et al. · Biochim Biophys Acta Bioenerg · 2025

PMID: 39366438Review

Targeting pantothenate kinases in human diseases: Biochemistry and pharmacotherapy.

[object Object], [object Object], [object Object] et al. · Biochem Pharmacol · 2025

PMID: 40754168Review

Neurodegeneration with Brain Iron Accumulation.

[object Object], [object Object] · Adv Exp Med Biol · 2025

PMID: 40603798Review

Iron Dysregulation in Neurodegeneration with Brain Iron Accumulation (NBIA): Links between Mutations Occurring in BPAN, PKAN, MPAN and PLAN Types and Iron Metabolism.

[object Object], [object Object], [object Object] et al. · Mol Neurobiol · 2025

PMID: 41276763ReviewFull text (PMC)

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2023

PMID: 36983025ReviewFull text (PMC)

Deep Brain Stimulation (DBS) with Subthalamic Nucleus (STN) as Target for Pediatric Patients with PKAN.

[object Object], [object Object], [object Object] et al. · World Neurosurg · 2022

PMID: 35367641Review

Search all PubMed articles for Pigmentary pallidal degeneration

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cerebral cortex atrophy

Always present (100%)HP:0002120

Choreiform movements

Always present (100%)HP:0002072

Elevated alkaline phosphatase

Always present (100%)HP:0003155

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Incoordination

Always present (100%)HP:0002311

Choreoathetoid movements

Very frequent (80-99%)HP:0001266

Corticospinal signs

Very frequent (80-99%)HP:0007256

Dystonic movements

Very frequent (80-99%)HP:0001332

Extrapyramidal syndrome

Very frequent (80-99%)HP:0002071

Gait disturbance

Very frequent (80-99%)HP:0001288

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Loss of ambulation

Very frequent (80-99%)HP:0002505

Poor vision

Very frequent (80-99%)HP:0000505

Retinal degeneration

Very frequent (80-99%)HP:0000546

Abetalipoproteinemia

Frequent (30-79%)HP:0008181

Acanthocytosis

Frequent (30-79%)HP:0001927

Behavioural disorders

Frequent (30-79%)HP:0000708

Bulbar signs

Frequent (30-79%)HP:0002483

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulties with night vision

Frequent (30-79%)HP:0000662

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Eye movement issue

Frequent (30-79%)HP:0000496

Eye of the tiger anomaly of globus pallidus

Frequent (30-79%)HP:0002454

Facial Dystonia

Frequent (30-79%)HP:0012179

Intellectual deterioration

Frequent (30-79%)HP:0001268

Iron accumulation in substantia nigra

Frequent (30-79%)HP:0012678

Leg dystonia

Frequent (30-79%)HP:0031959

Limb dystonia

Frequent (30-79%)HP:0002451

Limb pain

Frequent (30-79%)HP:0009763

Muscle rigidity

Frequent (30-79%)HP:0002063

Related Conditions

Classical pantothenate kinase associated neurodegeneration(child)

Atypical pantothenate kinase associated neurodegeneration(child)

Cerebral degeneration(parent)

Chorea(parent)

Abnormality of globus pallidus morphology(parent)

Quick Facts

SNOMED CT: 2992000
UMLS CUI: C0018523
Fully Specified Name: Pigmentary pallidal degeneration (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.