What is the origin of the name Hallervorden-Spatz disease, also known as Pantothenate Kinase-Associated Neurodegeneration (PKAN)?

Origin of the Name Hallervorden-Spatz Disease

The disease was named after two German neuropathologists, Julius Hallervorden and Hugo Spatz, who first described the condition in 1922, but this eponym has been largely abandoned due to their unethical involvement in the Nazi euthanasia program during World War II. 1, 2

Historical Background of the Original Description

• Hallervorden and Spatz first described the disease in a sibship of 12, identifying five sisters with clinically progressive dysarthria and dementia, whose brains showed characteristic brown discoloration of the globus pallidus and substantia nigra. 3
• The original pathological findings comprised neuronal loss, axonal swelling, gliosis, and iron deposits in the basal nuclei. 3

The Dark History Behind the Names

Both Julius Hallervorden and Hugo Spatz were directly involved in the Nazi euthanasia program, which fundamentally compromised the ethical foundation of using their names for this disease. 1, 2

• Julius Hallervorden actively participated in the Nazi euthanasia program targeting individuals with intellectual or physical disabilities in chronic-care facilities, using this program as a scientific opportunity to gain quick access to pathologic materials for his research objectives. 2
• Hugo Spatz served as director of the Kaiser Wilhelm Institute for Brain Research in Berlin-Buch during WWII, and recent evidence has identified at least 4 euthanized victims in his patient files from 1940 to 1945, confirming his involvement in the NS euthanasia program. 1
• The majority of pediatric brains from murdered children were transferred to the Kaiser Wilhelm Institut für Hirnforschung under Hugo Spatz's leadership and became part of the "Hallervorden collection." 4
• Hallervorden produced multiple postwar scientific publications using materials obtained through the euthanasia program, demonstrating continued exploitation of these unethically obtained specimens. 2

The Renaming Movement

The medical community has successfully transitioned away from the Hallervorden-Spatz eponym to more ethically appropriate terminology, with the disease now called Pantothenate Kinase-Associated Neurodegeneration (PKAN) or Neurodegeneration with Brain Iron Accumulation (NBIA). 5, 1

• The American College of Radiology now refers to this condition as "NBIA type 1, also known as pantothenate kinase-associated neurodegeneration and formerly known as Hallervorden-Spatz disease," explicitly acknowledging the historical name while promoting the new terminology. 5
• A systematic analysis of PubMed publications from 1990-2010 demonstrated a significant declining trend in unqualified use of the Hallervorden-Spatz eponym, dropping from 87.5% of articles (1990-1999) to 43.4% (2000-2010). 6
• All recent editions of major neurology textbooks now use pantothenate kinase-associated neurodegeneration instead of the historical eponym. 6
• Professional activities exploring connections between medical eponyms and Nazi activities accelerated in the mid-1980s, with the renaming process gaining momentum after discovery of the genetic basis (PANK2 gene mutations) underlying the disease. 4

Current Nomenclature Standards

• The condition is now classified as NBIA type 1, the most common subtype of neurodegeneration with brain iron accumulation, characterized by excess iron deposition in the basal ganglia with progressive neuronal degeneration. 5
• NBIA has several subtypes beyond PKAN, including mitochondrial protein-associated neurodegeneration (MPAN) and others, making the broader NBIA terminology more scientifically accurate than the original eponym. 4
• The buried "Hallervorden collection" in the Munich Waldfriedhof cemetery, with its memorial column, serves as a permanent reminder of how political systems can distort the judgment of academic physicians. 4