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@ARTICLE{Buchberger:283178,
      author       = {Buchberger, Anne and Riedel, Evamaria and Hackenberg, Marie
                      and Mensch, Alexander and Beck-Woedl, Stefanie and Park,
                      Joohyun and Haack, Tobias B and Haslinger, Bernhard and
                      Kirschke, Jan and Prokisch, Holger and Hermann, Andreas and
                      Mawrin, Christian and Danek, Adrian and Schoser, Benedikt
                      and Peikert, Kevin and Deschauer, Marcus and Cordts,
                      Isabell},
      title        = {{T}he {D}iverse {N}euromuscular {S}pectrum of {VPS}13{A}
                      {D}isease.},
      journal      = {Annals of Clinical and Translational Neurology},
      volume       = {13},
      number       = {1},
      issn         = {2328-9503},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2026-00057},
      pages        = {157 - 169},
      year         = {2026},
      abstract     = {VPS13A disease (chorea-acanthocytosis) is a rare
                      neurodegenerative disorder caused by biallelic variants in
                      VPS13A, typically presenting with hyperkinetic movement
                      disorders, while neuromuscular signs are often mild. The aim
                      of the project was to investigate the frequency and severity
                      of neuromuscular impairment in VPS13A disease.We
                      systematically assessed the neuromuscular involvement in six
                      patients with VPS13A disease. Our evaluation included
                      genetic and clinical data, blood tests, electrophysiological
                      studies, muscle MRI, and tissue samples from muscle and
                      nerve.Age at clinical onset was 14 to 38 years (median:
                      37.5). Age at onset of paresis was 27 to 29 years (median:
                      29). Initial symptoms included seizures (5/6), hyperkinesia
                      (2/6), and muscle weakness (1/6). Neuromuscular signs ranged
                      from hyporeflexia (5/6) to progressive muscle wasting (3/6).
                      Nine VPS13A variants were detected, including a novel
                      copy-neutral inversion. Phosphocreatine kinase was elevated
                      in all cases (498-12,420 U/L; median of highest values: 2230
                      U/L). Nerve conduction studies revealed sensorimotor axonal
                      neuropathy. Electromyography showed chronic neurogenic
                      changes with high amplitudes, polyphasic potentials, and
                      reduced interference patterns (6/6). Muscle MRI displayed
                      fatty atrophy, most prominently in the calves (5/5). Muscle
                      histology indicated neurogenic and myopathic changes.
                      Electron microscopy of mitochondria and respiratory chain
                      analysis showed no specific pathological findings.Our
                      findings emphasize the underrecognized neuromuscular
                      spectrum in VPS13A disease, ranging from subclinical signs
                      to severe paresis and sometimes preceding the hyperkinesia
                      that gave rise to the historical term of
                      chorea-acanthocytosis. A comprehensive understanding of the
                      phenotype is crucial for early diagnosis and appropriate
                      management of VPS13A disease.},
      keywords     = {Humans / Adult / Male / Neuroacanthocytosis: genetics /
                      Neuroacanthocytosis: physiopathology / Neuroacanthocytosis:
                      pathology / Neuroacanthocytosis: complications / Female /
                      Young Adult / Adolescent / Vesicular Transport Proteins:
                      genetics / VPS13A protein, human (NLM Chemicals) / Vesicular
                      Transport Proteins (NLM Chemicals)},
      cin          = {AG Hermann},
      ddc          = {610},
      cid          = {I:(DE-2719)1511100},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41030128},
      pmc          = {pmc:PMC12790172},
      doi          = {10.1002/acn3.70198},
      url          = {https://pub.dzne.de/record/283178},
}