Myopathic involvement in two cases of Hallervorden-Spatz disease

@article{Malandrini1995MyopathicII,
  title={Myopathic involvement in two cases of Hallervorden-Spatz disease},
  author={Alessandro Malandrini and Ubaldo Bonuccelli and Emma Parrotta and Roberto Ceravolo and Gianna Berti and Gian Carlo Guazzi},
  journal={Brain and Development},
  year={1995},
  volume={17},
  pages={286-290}
}

Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities

Hallervorden-Spatz syndrome.

  • K. Swaiman
  • Medicine, Psychology
    Pediatric neurology
  • 2001

Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis

Genetic analyses of the pantothenate kinase gene (PANK2) revealed two novel, disease‐causing exon 3 missense mutations (Cys231Ser and Tyr251Cys) and broadens the genotypic and phenotypic spectrum of HSS to include a late-onset syndrome resembling bulbar‐onset ALS.

The neuropathology of neurodegeneration with brain iron accumulation.

  • M. Kruer
  • Biology, Psychology
    International review of neurobiology
  • 2013

Short Communication Neurodegeneration with Brain Iron Accumulation, Type 1 Is Characterized by a-, b-, and g-Synuclein Neuropathology

The concept of neurodegenerative synucleinopathies is expanded by implicating aS, bS, and gS in the pathogenesis of NBIA 1 by demonstrating high-molecular weight aS aggregates in the high-salt-soluble and Triton X-100-insoluble/sodium dodecyl sulfate- soluble fraction of the NBIB 1 brain.

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

The first murine Trim32 knock-out model (T32KO) is created, which replicates phenotypes of LGMD2H and sarcotubular myopathy and suggests that muscular dystrophy due to TRIM32 mutations involves both neurogenic and myogenic characteristics.

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

It is demonstrated that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration.

References

SHOWING 1-3 OF 3 REFERENCES

Acanthocytosis and neurological impairment--a review.

  • R. Hardie
  • Medicine, Biology
    The Quarterly journal of medicine
  • 1989
Acanthocytes have a distinct morphology and are not normally found in peripheral blood, but they occur in association with at least three neurological syndromes, and the exact mechanism of acanthocytosis in each disorder remains uncertain.

Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases.

The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.