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Spinocerebellar Ataxia Type 2 (SCA2)
- Source :
- Cerebellum, 10(2), 245-253. SPRINGER
- Publication Year :
- 2011
- Publisher :
- SPRINGER, 2011.
-
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.
- Subjects :
- Adult
Male
INVOLVEMENT
Ataxia
CENTRAL SOMATOSENSORY SYSTEM
Adolescent
PRECEREBELLAR NUCLEI
Nerve Tissue Proteins
Adenocarcinoma
Deep cerebellar nuclei
Polymerase Chain Reaction
PATIENT
ATROPHY
Oculomotor nucleus
SCA2
REVEALS
medicine
CONSISTENT AFFECTION
Humans
Spinocerebellar Ataxias
Age of Onset
Aged
SECTIONS
Cerebellar ataxia
Brain
Prostatic Neoplasms
Twins, Monozygotic
Middle Aged
medicine.disease
Pons
INCLUSIONS
Pedigree
STEM NUCLEI
Ataxins
Neurology
Nerve Degeneration
Spinocerebellar ataxia
Female
Neurology (clinical)
Brainstem
ADCA
Primary motor cortex
medicine.symptom
Trinucleotide Repeat Expansion
Psychology
Neuroscience
Polyglutamine
Subjects
Details
- Language :
- English
- ISSN :
- 14734222
- Volume :
- 10
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Cerebellum
- Accession number :
- edsair.doi.dedup.....44c07882c3486ff944ab09c759c8deed