Talk:PANK2

Suggested historical clarification regarding HARP syndrome, PANK2, and nomenclature

I am Joseph J. Higgins, one of the authors of publications relevant to this topic. Because this represents a potential conflict of interest, I am requesting review by independent editors rather than making the edit myself.

Suggested addition:

"HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa and Pallidal degeneration) was first described in 1992. HARP syndrome was subsequently shown to be allelic with pantothenate kinase-associated neurodegeneration (PKAN). The original HARP patient was later found to carry a homozygous PANK2 mutation, confirming that HARP syndrome lies within the spectrum of PANK2-related disease.

Historically, PKAN was previously classified under the term Hallervorden–Spatz disease. This terminology was subsequently replaced by PKAN and the broader category neurodegeneration with brain iron accumulation (NBIA). Published reviews note that the Hallervorden–Spatz eponym was abandoned because of the association of Julius Hallervorden and Hugo Spatz with Nazi-era euthanasia programs and unethical human research."

References:

Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration (HARP syndrome). Neurology. 1992;42:194–198. PMID: 1734303.

Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology 2002;58:673-1674. PMID: 12058097

Voges L, Kupsch A. Renaming of Hallervorden–Spatz disease: the second man behind the name of the disease. Journal of Neural Transmission. 2021;128(11):1635–1640. PMID: 34655340

Thank you for considering this suggested historical clarification.

HigginsJJPedNeuro (talk) 19:21, 27 July 2026 (UTC)

Hi HigginsJJPedNeuro, thank you for your proposed edit. There is an article about pantothenate kinase-associated neurodegeneration, so maybe some of this edit—specifically its renaming—may be best suited there. This article currently has "Mutations in this gene are associated with HARP (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa and Pallidal degeneration) syndrome and Pantothenate kinase-associated neurodegeneration (PKAN)." Where do you think your proposed edits would best fit? I am marking this request as addressed; to re-open it, change "answered=yes" to "answered=no" in the {{edit COI}} template above. Best, Spencer^T•C 03:32, 28 July 2026 (UTC)

Hi Spencer,

Thank you for the thoughtful response and suggestion.

I agree that the pantothenate kinase-associated neurodegeneration (PKAN) article is likely the more appropriate location for this historical clarification, particularly since the nomenclature evolved following the identification of PANK2 mutations and the subsequent replacement of the Hallervorden–Spatz designation.

My goal was simply to preserve the historical sequence:

HARP syndrome was first described as a distinct clinical entity (Higgins et al., 1992).

HARP syndrome was subsequently shown to be allelic with pantothenate kinase-associated neurodegeneration (Ching et al., 2002).

The broader term Hallervorden–Spatz disease was later replaced by PKAN for historical and ethical reasons (Voges & Kupsch, 2021).

I will repost a condensed version of the proposed clarification on the PKAN page, where this information may fit more naturally within the discussion of disease nomenclature and historical development.

Thank you again for the guidance and for taking the time to review the suggestion.

Best regards,

Joe Higgins HigginsJJPedNeuro (talk) 12:34, 28 July 2026 (UTC)