Spinocerebellar ataxia type 2 (SCA2): Identification of early brain degeneration in one monozygous twin in the initial disease stage

Franziska Hoche, L. Balikó, Wilfred Den Dunnen, Katalin Steinecker, Laszlo Bartos, E. Sáfrány, Georg Auburger, Thomas Deller, Horst Werner Korf, Thomas Klockgether, Udo Rüb, B. Melegh

Research output: Article

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)245-253
Number of pages9
JournalCerebellum
Volume10
Issue number2
DOIs
Publication statusPublished - jún. 2011

Fingerprint

Diseases in Twins
Spinocerebellar Ataxias
Brain
Pathologic Processes
Cerebellar Nuclei
Thalamic Nuclei
Cerebellar Ataxia
Raphe Nuclei
Pons
Pyramidal Cells
Purkinje Cells
Motor Cortex
Substantia Nigra
Brain Stem
Alleles

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Spinocerebellar ataxia type 2 (SCA2) : Identification of early brain degeneration in one monozygous twin in the initial disease stage. / Hoche, Franziska; Balikó, L.; Den Dunnen, Wilfred; Steinecker, Katalin; Bartos, Laszlo; Sáfrány, E.; Auburger, Georg; Deller, Thomas; Korf, Horst Werner; Klockgether, Thomas; Rüb, Udo; Melegh, B.

In: Cerebellum, Vol. 10, No. 2, 06.2011, p. 245-253.

Research output: Article

Hoche, F, Balikó, L, Den Dunnen, W, Steinecker, K, Bartos, L, Sáfrány, E, Auburger, G, Deller, T, Korf, HW, Klockgether, T, Rüb, U & Melegh, B 2011, 'Spinocerebellar ataxia type 2 (SCA2): Identification of early brain degeneration in one monozygous twin in the initial disease stage', Cerebellum, vol. 10, no. 2, pp. 245-253. https://doi.org/10.1007/s12311-010-0239-9
Hoche, Franziska ; Balikó, L. ; Den Dunnen, Wilfred ; Steinecker, Katalin ; Bartos, Laszlo ; Sáfrány, E. ; Auburger, Georg ; Deller, Thomas ; Korf, Horst Werner ; Klockgether, Thomas ; Rüb, Udo ; Melegh, B. / Spinocerebellar ataxia type 2 (SCA2) : Identification of early brain degeneration in one monozygous twin in the initial disease stage. In: Cerebellum. 2011 ; Vol. 10, No. 2. pp. 245-253.
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