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Mapping Anatomical Cerebellar Changes and their Neurocognitive Manifestations in SCA34: A Detailed Case Analysis

Kirchhoff, Lena LU (2025) PSYP01 20251
Department of Psychology
Abstract
Spinocerebellar Ataxia Type 34 is a rare hereditary ataxia characterised by progressive cerebellar degeneration, motor impairment, and dermatological features, with cognitive manifestations remaining poorly understood. This case report presents neurocognitive and neuroimaging profiles of two Swedish male patients with genetically confirmed SCA34. Both underwent an extensive neuropsychological test battery and ultra-high-field 7T MRI scanning, enabling fine-grained measurement of cerebellar cortical thickness using both traditional lobular and functional parcellations. In both patients, cortical thinning was observed compared to an age- and sex-matched control, most prominently in Crus I/II and lobule VI. These reductions were descriptively... (More)
Spinocerebellar Ataxia Type 34 is a rare hereditary ataxia characterised by progressive cerebellar degeneration, motor impairment, and dermatological features, with cognitive manifestations remaining poorly understood. This case report presents neurocognitive and neuroimaging profiles of two Swedish male patients with genetically confirmed SCA34. Both underwent an extensive neuropsychological test battery and ultra-high-field 7T MRI scanning, enabling fine-grained measurement of cerebellar cortical thickness using both traditional lobular and functional parcellations. In both patients, cortical thinning was observed compared to an age- and sex-matched control, most prominently in Crus I/II and lobule VI. These reductions were descriptively consistent with deficits in executive functioning, working memory, and visuospatial processing, consistent with Cerebellar Cognitive Affective Syndrome. One patient presented longer disease duration and greater motor impairment, as well as more severe cortical thinning and broader cognitive impairments, descriptively aligning with a correspondence between structural and functional disease severity. While exploratory analyses using functional (MDTB) parcellations provided complementary perspectives, results were constrained by methodological challenges including segmentation artifacts and atlas misalignments. Overall, the findings provide the first high-resolution mapping of cerebellar cortical thickness in SCA34 and underscore the importance of integrating advanced neuroimaging with neurocognitive profiling to clarify the cerebellum’s role in cognition. (Less)
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author
Kirchhoff, Lena LU
supervisor
organization
course
PSYP01 20251
year
type
H2 - Master's Degree (Two Years)
subject
keywords
SCA34, cerebellar cortical thickness, cerebellum, CCAS, MDTB-atlas
language
English
id
9215205
date added to LUP
2025-11-12 16:30:58
date last changed
2025-11-12 16:30:58
@misc{9215205,
  abstract     = {{Spinocerebellar Ataxia Type 34 is a rare hereditary ataxia characterised by progressive cerebellar degeneration, motor impairment, and dermatological features, with cognitive manifestations remaining poorly understood. This case report presents neurocognitive and neuroimaging profiles of two Swedish male patients with genetically confirmed SCA34. Both underwent an extensive neuropsychological test battery and ultra-high-field 7T MRI scanning, enabling fine-grained measurement of cerebellar cortical thickness using both traditional lobular and functional parcellations. In both patients, cortical thinning was observed compared to an age- and sex-matched control, most prominently in Crus I/II and lobule VI. These reductions were descriptively consistent with deficits in executive functioning, working memory, and visuospatial processing, consistent with Cerebellar Cognitive Affective Syndrome. One patient presented longer disease duration and greater motor impairment, as well as more severe cortical thinning and broader cognitive impairments, descriptively aligning with a correspondence between structural and functional disease severity. While exploratory analyses using functional (MDTB) parcellations provided complementary perspectives, results were constrained by methodological challenges including segmentation artifacts and atlas misalignments. Overall, the findings provide the first high-resolution mapping of cerebellar cortical thickness in SCA34 and underscore the importance of integrating advanced neuroimaging with neurocognitive profiling to clarify the cerebellum’s role in cognition.}},
  author       = {{Kirchhoff, Lena}},
  language     = {{eng}},
  note         = {{Student Paper}},
  title        = {{Mapping Anatomical Cerebellar Changes and their Neurocognitive Manifestations in SCA34: A Detailed Case Analysis}},
  year         = {{2025}},
}