Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage View Full Text


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Article Info

DATE

2010-12-03

AUTHORS

Franziska Hoche, Laszlo Balikó, Wilfred den Dunnen, Katalin Steinecker, Laszlo Bartos, Eniko Sáfrány, Georg Auburger, Thomas Deller, Horst-Werner Korf, Thomas Klockgether, Udo Rüb, Bela Melegh

ABSTRACT

Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominantly inherited cerebellar ataxia and is assigned to the CAG repeat or polyglutamine diseases. Recent morphological studies characterized the pathoanatomical features in heterozygous SCA2 patients and revealed severe neuronal loss in a large variety of cerebellar and extra-cerebellar brain sites. In the present study, we examined the brain pathoanatomy of a monozygous twin of a large Hungarian SCA2 family with pathologically extended CAG repeats in both SCA2 alleles. This unique patient was in the initial clinical stage of SCA2 and died almost 3 years after SCA2 onset. Upon pathoanatomical investigation, we observed loss of giant Betz pyramidal cells in the primary motor cortex, degeneration of sensory thalamic nuclei, the Purkinje cell layer, and deep cerebellar nuclei, as well as select brainstem nuclei (i.e., substantia nigra, oculomotor nucleus, reticulotegmental nucleus of the pons, facial, lateral vestibular, and raphe interpositus nuclei, inferior olive). All of these degenerated brain gray matter structures are known as consistent targets of the underlying pathological process in heterozygous SCA2 patients. Since they were already involved in our patient within 3 years after disease onset, we think that we were for the first time able to identify the early brain targets of the pathological process of SCA2. More... »

PAGES

245-253

References to SciGraph publications

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  • 2008-04-02. Functional neuroanatomy of the human premotor oculomotor brainstem nuclei: insights from postmortem and advanced in vivo imaging studies in EXPERIMENTAL BRAIN RESEARCH
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  • 2005-03-23. Spinocerebellar ataxias types 2 and 3: degeneration of the precerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum in JOURNAL OF NEURAL TRANSMISSION
  • 1996-11. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s12311-010-0239-9

    DOI

    http://dx.doi.org/10.1007/s12311-010-0239-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1023544255

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21128038


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