Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

Gierga, K.; Schelhaas, Helenius J.; Brunt, Ewout; Seidel, Kay; Scherzed, W.; Egensperger, Rupert; Vos, Rob A. I. de; Dunnen, Wilfred F. A. den; Ippel, P. F.; Petrasch‐Parwez, Elisabeth; Deller, Thomas; Schöls, Lüdger; Rüb, Udo

doi:10.1111/j.1365-2990.2009.01015.x

Cited by 46 publications

(34 citation statements)

References 54 publications

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“…1 However, there is increasing evidence of a widespread affection of extracerebellar structures in SCA6, such as the thalamus, midbrain, and even the brain stem as shown by recent postmortem studies. 12,13 In the current volumetric MR imaging study, we found significant atrophy not only of the cerebellum but also of the brain stem in SCA6. Both cerebellar atrophy and brain stem atrophy contributed independently to the variance in clinical dysfunction in patients with SCA6.…”

Section: Discussionmentioning

confidence: 73%

“…In SCA6, Gierga et al 13 found, in a postmortem study, that the extent of brain stem neurodegeneration correlated with the age at disease onset and disease duration. Their interpretation was that the severity of degeneration in SCA6 might be determined by these 2 factors.…”

Section: Discussionmentioning

confidence: 99%

“…28,29 As with ataxia, oculomotor dysfunction may result as a consequence of damage in distinct functional compartments. Oculomotor dysfunction may be related to brain stem nuclei involvement, such as the superior and medial vestibular nuclei, 13 or to a lesion of the cerebellum, in particular the oculomotor vermis.…”

Section: Discussionmentioning

confidence: 99%

“…1,4,5,10,11 However, there is increasing evidence of widespread neurodegeneration in SCA6 affecting the brain stem and the primary motor cortex, as shown recently in neuropathologic studies. 12,13 So far, only one study has assessed brain stem atrophy in SCA6, applying quantitative MR imaging methods. Those results were limited by the small number of patients, and the impact of those findings was not discussed further.…”

mentioning

confidence: 99%

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Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

Eichler¹,

Bellenberg²,

Hahn³

et al. 2011

AJNR Am J Neuroradiol

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

Eichler¹,

Bellenberg²,

Hahn³

et al. 2011

AJNR Am J Neuroradiol

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“…Symmetrical stimulation of the posterior semicircular canals with nystagmus frequency (CC=9 and C=9) with DP of 0%. Symmetrical stimulation of posterior semicircular canals, with nystagmus frequency (CC= 9 and C=9) with DP of 0%, and post-caloric nystagmus with air at 42ºC in the right ear (RE) with SCAV of 0°/s (no response), 42ºC in the left ear (LE) with SCAV of 18°/s, 18°C in RE cerebellar cortex and a gliosis of the inferior olivary complex [10][11][12] .…”

Section: Resultsmentioning

confidence: 99%

Ataxia espinocerebelar tipo 6: relato de caso

et al. 2014

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O objetivo deste estudo foi verificar as alterações vestibulococleares observadas em um caso de ataxia espinocerebelar tipo 6. O caso foi encaminhado do Hospital de Clínicas para o Laboratório de Otoneurologia de uma Instituição de Ensino e foi submetido aos seguintes procedimentos: anamnese, inspeção otológica, avaliações audiológica e vestibular. O caso retrata uma paciente com diagnóstico genético de ataxia espinocerebelar tipo 6, do sexo feminino, com 57 anos de idade, que referiu desequilíbrio à marcha com tendência a queda para a esquerda, disartria e disfonia. Na avaliação audiológica apresentou configuração audiométrica descendente a partir da frequência de 4kHz e curva timpanométrica do tipo "A" com presença dos reflexos estapedianos bilateralmente. No exame vestibular observou-se na pesquisa da vertigem posicional presença de nistagmo vertical inferior e oblíquo, espontâneo e semiespontâneo múltiplo com características centrais (ausência de latência, paroxismo, fatigabilidade e vertigem), nistagmooptocinético abolido e hiporreflexia à prova calórica. Constataram-se alterações labirínticas que indicaram afecção do sistema vestibular central evidenciando-se a importância dessa avaliação. A existência da possível relação entre os achados com os sintomas vestibulares apresentados pela paciente apontou a relevância do exame labiríntico neste tipo de ataxia uma vez que a presença do nistagmo vertical inferior demonstrou ser frequente neste tipo de patologia.

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Betz cells of the primary motor cortex

Nolan,

Scott,

Hof

et al. 2024

J of Comparative Neurology

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Betz cells, named in honor of Volodymyr Betz (1834–1894), who described them as “giant pyramids” in the primary motor cortex of primates and other mammalian species, are layer V extratelencephalic projection (ETP) neurons that directly innervate α‐motoneurons of the brainstem and spinal cord. Despite their large volume and circumferential dendritic architecture, to date, no single molecular criterion has been established that unequivocally distinguishes adult Betz cells from other layer V ETP neurons. In primates, transcriptional signatures suggest the presence of at least two ETP neuron clusters that contain mature Betz cells; these are characterized by an abundance of axon guidance and oxidative phosphorylation transcripts. How neurodevelopmental programs drive the distinct positional and morphological features of Betz cells in humans remains unknown. Betz cells display a distinct biphasic firing pattern involving early cessation of firing followed by delayed sustained acceleration in spike frequency and magnitude. Few cell type‐specific transcripts and electrophysiological characteristics are conserved between rodent layer V ETP neurons of the motor cortex and primate Betz cells. This has implications for the modeling of disorders that affect the motor cortex in humans, such as amyotrophic lateral sclerosis (ALS). Perhaps vulnerability to ALS is linked to the evolution of neural networks for fine motor control reflected in the distinct morphomolecular architecture of the human motor cortex, including Betz cells. Here, we discuss histological, molecular, and functional data concerning the position of Betz cells in the emerging taxonomy of neurons across diverse species and their role in neurological disorders.

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Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

Abstract: In view of the known functional role of affected central nervous grey components it is likely that their degeneration at least in part is responsible for the occurrence of a variety of SCA6 disease symptoms.

Cited by 46 publications

References 54 publications

Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

Ataxia espinocerebelar tipo 6: relato de caso

Betz cells of the primary motor cortex

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