Torpedoes in the Cerebellar Vermis in Essential Tremor Cases vs. Controls

Louis, Elan D.; Faust, Phyllis L.; Karén, Jakob; Yu, Mia; Cortés, Etty; Vonsattel, Jean Paul

doi:10.1007/s12311-011-0291-0

Cited by 70 publications

(43 citation statements)

References 58 publications

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“…The volume of segments in a contiguous region of the vermis was reduced in the patient group, and there tended to be a greater reduction in volume in the cerebellar-ET group when compared with classic-ET group. This result is also compatible with recent pathological findings, which reported that the number of torpedoes in the cerebellar vermis was higher in ET patients when compared with controls [45].…”

Section: Discussionsupporting

confidence: 93%

Atrophy of the Cerebellar Vermis in Essential Tremor: Segmental Volumetric MRI Analysis

HyeEun

Lee

et al. 2015

Cerebellum

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Postmortem studies of essential tremor (ET) have demonstrated the presence of degenerative changes in the cerebellum, and imaging studies have examined related structural changes in the brain. However, their results have not been completely consistent and the number of imaging studies has been limited. We aimed to study cerebellar involvement in ET using MRI segmental volumetric analysis. In addition, a unique feature of this study was that we stratified ET patients into subtypes based on the clinical presence of cerebellar signs and compared their MRI findings. Thirty-nine ET patients and 36 normal healthy controls, matched for age and sex, were enrolled. Cerebellar signs in ET patients were assessed using the clinical tremor rating scale and International Cooperative Ataxia Rating Scale. ET patients were divided into two groups: patients with cerebellar signs (cerebellar-ET) and those without (classic-ET). MRI volumetry was performed using CIVET pipeline software. Data on whole and segmented cerebellar volumes were analyzed using SPSS. While there was a trend for whole cerebellar volume to decrease from controls to classic-ET to cerebellar-ET, this trend was not significant. The volume of several contiguous segments of the cerebellar vermis was reduced in ET patients versus controls. Furthermore, these vermis volumes were reduced in the cerebellar-ET group versus the classic-ET group. The volume of several adjacent segments of the cerebellar vermis was reduced in ET. This effect was more evident in ET patients with clinical signs of cerebellar dysfunction. The presence of tissue atrophy suggests that ET might be a neurodegenerative disease.

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Section: Discussionsupporting

confidence: 93%

Atrophy of the Cerebellar Vermis in Essential Tremor: Segmental Volumetric MRI Analysis

HyeEun

Lee

et al. 2015

Cerebellum

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“…It is presumed to be secondary to dysfunction of the olivocerebellothalamic pathways [105], [106]. Although debated, relatively recent neuropathologic studies point towards Purkinje cell axonal swellings (“torpedoes”) in the cerebellar hemispheres and vermis as potential markers of disease [107]. …”

Section: - Alcohol Use In Patients With Movement Disorders: Essentiamentioning

confidence: 99%

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities

Deik¹,

Saunders‐Pullman²,

Luciano³

2012

CDAR

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The relationship between movement disorders and substance abuse which we previously reviewed are updated. We examine these relationships bidirectionally with focus on drugs of abuse which cause movement disorders, as well as primary movement disorders that are associated with use and abuse of alcohol and dopaminergic medications. First, we review the movement disorders that may develop from the acute use or withdrawal of frequent drugs of abuse, including alcohol, cocaine, heroin, amphetamine and methcathinone. We then comment on the interaction between alcoholism and alcohol-responsive movement disorders, such as essential tremor and myoclonus-dystonia. Lastly, we discuss the potential for abuse of antiparkinsonian dopaminergic agents in patients with Parkinson’s disease (PD).

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“…The term “torpedo” was used to identify these focal swellings in 1918 by the Dutch psychiatrist Leendert Bouman (Bouman, 1918), and the term has been used since then to identify swellings or spheroids on Purkinje cell axons. Purkinje cell axonal torpedoes are observed in several diseases, including essential tremor (Louis et al, 2006, 2009, 2014), spinocerebellar ataxias (Sasaki et al, 1998; Yang et al, 2000; Louis et al, 2014), encephalopathy (Yagishita, 1978), and other cerebellar disorders (Hirano et al, 1973; Louis et al, 2014), and are especially prevalent in the cerebellar vermis (Louis et al, 2011). Torpedo-like swellings have also been observed in several spontaneously arising ataxic rodents, for e.g., weaver (Hirano et al, 1973), hyperspiny Purkinje cell (hpc) (Sotelo, 1990), and sticky mice (Sarna and Hawkes, 2011), groggy rats (Takeuchi et al, 1995), and in mouse models of disease such as Autosomal Recessive Ataxia of the Charlevoix-Saguenay Region (ARSACS) (Lariviere et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Transient Developmental Purkinje Cell Axonal Torpedoes in Healthy and Ataxic Mouse Cerebellum

Ljungberg

Lang-Ouellette

Yang

et al. 2016

Front. Cell. Neurosci.

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Information is carried out of the cerebellar cortical microcircuit via action potentials propagated along Purkinje cell axons. In several human neurodegenerative diseases, focal axonal swellings on Purkinje cells – known as torpedoes – have been associated with Purkinje cell loss. Interestingly, torpedoes are also reported to appear transiently during development in rat cerebellum. The function of Purkinje cell axonal torpedoes in health as well as in disease is poorly understood. We investigated the properties of developmental torpedoes in the postnatal mouse cerebellum of wild-type and transgenic mice. We found that Purkinje cell axonal torpedoes transiently appeared on axons of Purkinje neurons, with the largest number of torpedoes observed at postnatal day 11 (P11). This was after peak developmental apoptosis had occurred, when Purkinje cell counts in a lobule were static, suggesting that most developmental torpedoes appear on axons of neurons that persist into adulthood. We found that developmental torpedoes were not associated with a presynaptic GABAergic marker, indicating that they are not synapses. They were seldom found at axonal collateral branch points, and lacked microglia enrichment, suggesting that they are unlikely to be involved in axonal refinement. Interestingly, we found several differences between developmental torpedoes and disease-related torpedoes: developmental torpedoes occurred largely on myelinated axons, and were not associated with changes in basket cell innervation on their parent soma. Disease-related torpedoes are typically reported to contain neurofilament; while the majority of developmental torpedoes did as well, a fraction of smaller developmental torpedoes did not. These differences indicate that developmental torpedoes may not be functionally identical to disease-related torpedoes. To study this further, we used a mouse model of spinocerebellar ataxia type 6 (SCA6), and found elevated disease-related torpedo number at 2 years. However, we found normal levels of developmental torpedoes in these mice. Our findings suggest that the transient emergence of Purkinje cell axonal torpedoes during the second postnatal week in mice represents a normal morphological feature in the developing cerebellar microcircuit.

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Torpedoes in the Cerebellar Vermis in Essential Tremor Cases vs. Controls

Cited by 70 publications

References 58 publications

Atrophy of the Cerebellar Vermis in Essential Tremor: Segmental Volumetric MRI Analysis

Atrophy of the Cerebellar Vermis in Essential Tremor: Segmental Volumetric MRI Analysis

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities

Transient Developmental Purkinje Cell Axonal Torpedoes in Healthy and Ataxic Mouse Cerebellum

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