NEUROAXONAL DYSTROPHY IN CHILDHOOD Report of Two Second Cousins with Hallerworden‐Spatz Disease, and a Case of Seitelberger's Disease

@article{MalmstrmGroth1982NEUROAXONALDI,
  title={NEUROAXONAL DYSTROPHY IN CHILDHOOD Report of Two Second Cousins with Hallerworden‐Spatz Disease, and a Case of Seitelberger's Disease},
  author={A. Malmstr{\"o}m-Groth and Krister Kristensson},
  journal={Acta P{\ae}diatrica},
  year={1982},
  volume={71}
}
ABSTRACT. Three late infantile cases of neuroaxonal dystrophy are presented, two of them second cousins with Hallerworden‐Spatz disease and one sporadic case with Seitelberger's disease. At about 1 1/2 years of age the patients with Hallerworden‐Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation. They died at 8 and 11 years. Iron deposits and axonal dystrophy were found in the pallidum. The changes are compared to those in a case of… 

Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life

It is proposed that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.

Distal infantile neuroaxonal dystrophy – a new familial variant with perineuronal argyrophilic bodies

Two sisters with an infantile onset of dyskinetic movements, tonic spasms, seizures and apneic spells are considered to represent a new form of infantile neuroaxonal dystrophy, characterized by the degeneration of perineuronal terminals in the cerebral cortex and in the basal ganglia, as well as by axonal degeneration in the cerebellum and peripheral nerves.

Genetic and age related models of neurodegeneration in mice: dystrophic axons.

Three newly discovered mouse neurological mutants of neuroaxonal dystrophy may prove useful in studies of the pathophysiology of DA in general and of specific inherited diseases of man, such as infantile Neuroaxonal Dystrophy and Hallervordin-Spatz disease.

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.

The results suggest that Pank2 deficiency promotes an increased oxidative status that is further enhanced by the addition of iron, potentially causing damage in cells.

References

SHOWING 1-10 OF 16 REFERENCES

Ein Beitrag zur Infantilen neuro-axonalen Dystrophie

The outstanding neuropathologic findings are axonal swellings which are most numerous in the dorsal regions of the medulla oblongata which are possible evidence of a common pathogenesis of the underlying disorder in both groups, whose etiology is as yet unknown.

Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations.

Rectal biopsy findings in infantile neuroaxonal dystrophy.

A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease, and his clinical findings were compatible with infantile neuroaxonal dystrophy.

Hallervorden-Spatz syndrome.

• Two siblings with Hallervorden-Spatz syndrome showed striking homotypism and homochronism. Neuropathologic examination and electron microscopic studies were done; neutron activation analysis showed

Pathogenesis of pigment and spheroid formation in Hallervorden‐Spatz syndrome and related disorders

It is suggested that neuromelanin is a late stage in the metabolism of intraneuronal and extraneuronal lipopigments, and its precursors, and relation of peroxidation to the pathogenesis of some related degenerative diseases is proposed.

Computed tomography in Hallervorden‐Spatz disease

Computed tomography in a 34-year-old woman with Hallervorden-Spatz disease showed severe diffuse cerebral atrophy and ventricular enlargement, andRatios between the intercaudate distance and the width of the frontal horns exceeded those found in patients with Huntington disease.

Intérêt de la biopsie neuro-musculaire dans le diagnostic de la dystrophie neuro-axonale infantile

The presence of spheroïds in peripheral and intramuscular nerves, but also in the motor end plates allows the diagnostic of infantile neuro-axonal dystrophy, without doing cerebral biopsy.

Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.

Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy

[Infantile neuroaxonal dystrophy or Seitelberger's disease].

Computed tomography in Hallerworden-Spatz disease

  • Neurology
  • 1980