disease 2,291 words KG: ent-dise-34b8f043 2026-03-26
kind:diseasesection:diseasestopic:parkinsonstopic:pspstate:published
Contents

Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Disease Info
Prevalence1-3 per million population worldwide
Prevalence within NBIA35-50% of all NBIA cases
Inheritance patternAutosomal recessive (both copies of PANK2 must be mutated)
Gender distributionEqual affected males and females
Age of onsetTwo main clinical forms
Classic PKANOnset before age 6 (accounts for ~75% of cases)
Atypical PKANOnset after age 10, typically in adolescence
LocationChromosome 20p13
Exons16
Protein691 amino acids
Subcellular localizationMitochondrial matrix
Null (loss-of-function) mutationsComplete loss of PANK2 activity; typically associated with classic, severe PKAN phenotype
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (30)

SASP-Mediated Complement Cascade Amplification
Score: 0.70
Nutrient-Sensing Epigenetic Circuit Reactivation
Score: 0.67
Transcriptional Autophagy-Lysosome Coupling
Score: 0.66
Selective Acid Sphingomyelinase Modulation Therapy
Score: 0.65
CYP46A1 Overexpression Gene Therapy
Score: 0.63

Related Analyses (30)

TREM2 agonism vs antagonism in DAM microglia
neurodegeneration · failed
Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · archived
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived

Related Experiments (30)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
Proposed experiment from debate on Astrocytes adopt A1 (neur
falsification · proposed · Score: 0.40
s:** - Biochemical binding assays measuring PROTAC selectivi
falsification · proposed · Score: 0.40
Proposed experiment from debate on Epigenetic clocks and bio
falsification · proposed · Score: 0.40
Proposed experiment from debate on Microglia activate astroc
falsification · proposed · Score: 0.40

See Also (15)

Yoga Therapy for Neurodegeneration
therapeutic · Pages share 139 hypotheses
YAP/TEAD Pathway Modulators for Neurodegeneration
therapeutic · Pages share 139 hypotheses
Wnt Signaling Modulators for Neurodegeneration
therapeutic · Pages share 139 hypotheses
vitamin-d-therapy-neurodegeneration
therapeutic · Pages share 139 hypotheses
Vitamin B Complex Therapy for Neurodegeneration
therapeutic · Pages share 139 hypotheses