Learn About Pantothenate Kinase-Associated Neurodegeneration

What is the definition of Pantothenate Kinase-Associated Neurodegeneration?

Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.

Save information for later
Sign Up
What are the causes of Pantothenate Kinase-Associated Neurodegeneration?

Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration.

How prevalent is Pantothenate Kinase-Associated Neurodegeneration?

The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.

Is Pantothenate Kinase-Associated Neurodegeneration an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Pantothenate Kinase-Associated Neurodegeneration Local Doctors?
Elite
Highly rated in
34
conditions

Munich Cluster For Systems Neurology

Munich, BY, DE 80336

Thomas Klopstock is in Munich, Germany. Klopstock is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Optic Nerve Atrophy, Leber Hereditary Optic Neuropathy, Pantothenate Kinase-Associated Neurodegeneration, and Hallervorden-Spatz Disease.

Elite
Highly rated in
29
conditions

Ludwig Maximilians Universität München

Munich, BY, DE 

Susanne Schneider is in Munich, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. She is also highly rated in 29 other conditions, according to our data. Her top areas of expertise are Hallervorden-Spatz Disease, Pantothenate Kinase-Associated Neurodegeneration, Drug Induced Dyskinesia, and Chorea.

 
 
 
 
Learn about our expert tiers
Learn more
Elite
Highly rated in
5
conditions
Neurology

OHSU

OHSU Genetics And Birth Defects Clinic, Marquam Hill

707 Sw Gaines St 
Portland, OR 97239

Penelope Hogarth is a Neurologist in Portland, Oregon. Dr. Hogarth has been practicing medicine for over 28 years and is rated as an Elite doctor by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Beta-Propeller Protein-Associated Neurodegeneration, and Drug Induced Dyskinesia. She is licensed to treat patients in Oregon. Dr. Hogarth is currently accepting new patients.

What are the latest Pantothenate Kinase-Associated Neurodegeneration Clinical Trials?
A Phase 2 Study of a Vitamin Metabolite for PKAN
Match to trials
Find the right clinical trials for you in under a minute
Get started
NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
Who are the sources who wrote this article ?

Published Date:updated Last, June

Published By: National Institutes of Health

What are the Latest Advances for Pantothenate Kinase-Associated Neurodegeneration?
NBIA Syndromes: A Step Forward from the Previous Knowledge.
Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene.
Tired of the same old research?
Check Latest Advances
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.