Research article
Hereditary spastic dystonia with Leber's hereditary optic neuropathy: Neuropathological findings

https://doi.org/10.1016/0022-510X(92)90265-MGet rights and content

Abstract

Neuropathological findings in a 59-year-old male case of hereditary spastic dystonia with Leber's hereditary optic atrophy included: marked depletion of myelinated nerve fibres in the posterior funiculi, corticopontine tracts and striatum: practically complete neuronal depletion in the putamen and lateral part of the caudate, and mild cell loss in the substantia nigra. The putamina had changed into a spongy fibrillary scar, the pallidal fibres and laminae were practically all degenerated. Moreover, there was generalised mild fibre degeneration of the white matter. The optic nerve showed marked, predominantly central, loss of nerve fibres with demyelination.

References (14)

There are more references available in the full text version of this article.

Cited by (19)

  • An overview of neurological and neuromuscular signs in mitochondrial diseases

    2014, Revue Neurologique
    Citation Excerpt :

    The homoplasmic m.9176 T>C mutation in the mitochondrial ATP6 gene was reported by Verny et al., 2011 [127], in a large family suffering from a late-onset spastic paraplegia-like disorder. In a large Dutch family, 24 individuals over 7 generations presented hereditary spastic dystonia and Leber optic neuropathy, either separately or in combination, with 2 identified mutations in ND4 and ND6 mitochondrial genes [128]. Spastic paraplegia type 55 (SPG55), due to c12orf65 mutation, is defined by early-onset spastic paraparesis with optic atrophy and axonal neuropathy [129].

  • Movement disorders and mitochondrial disease

    2011, Handbook of Clinical Neurology
    Citation Excerpt :

    Affected members had bilateral putaminal necrosis on brain imaging, except for two patients who had only unilateral involvement (Bruyn et al., 1991). Neuropathological examination of one patient showed complete neuronal depletion in the putamen and lateral caudate (Bruyn et al., 1992). De Vries et al. (1996) later discovered the presence of two mtDNA point mutations in this pedigree: a homoplasmic T to A transition at position 14596 and a heteroplasmic A to G transition at position 11696.

  • Chapter 4 Leber's Hereditary Optic Neuropathy

    2002, Blue Books of Practical Neurology
View all citing articles on Scopus
View full text