Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Szmulewicz, David J.; Seiderer, Linda; Halmagyi, Michael; Storey, Elsdon; Roberts, Leslie

doi:10.1002/mus.24422

Cited by 40 publications

(35 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The nerves of neuropathy controls were demonstrably larger than those of healthy controls in the upper limbs. The clinical and electrophysiological pattern of abnormality in our patients with CANVAS was consistent with the diagnostic criteria suggested for sensory neuronopathy [12] and with a recent electrophysiological study [15], so it is very likely that the reduced nerve size in CANVAS corresponds to the severe loss of axons previously demonstrated in nerve biopsy. It is plausible that sensory axon loss secondary to dorsal ganglion cell death results in nerve thinning, reflected in reduced nerve cross-sectional area on ultrasound.…”

Section: Discussionsupporting

confidence: 90%

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

Pelosi

Mulroy²,

Leadbetter

et al. 2018

Euro J of Neurology

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 90%

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

Pelosi

Mulroy²,

Leadbetter

et al. 2018

Euro J of Neurology

View full text Add to dashboard Cite

show abstract

“…The nonlength‐dependent nature of sensory loss observed on neurophysiological testing in our cases supports a sensory ganglionopathy/neuronopathy rather than a classic length‐dependent axonal sensory neuropathy. This is consistent with neurophysiological testing results in 14 CANVAS patients who were diagnosed with a sensory neuronopathy . The underlying pathology for the sensory neuronopathy is dorsal root ganglia neuronal degeneration and secondary loss of posterior column myelinated axons .…”

Section: Discussionsupporting

confidence: 84%

“…This is consistent with neurophysiological testing results in 14 CANVAS patients who were diagnosed with a sensory neuronopathy. 7 The underlying pathology for the sensory neuronopathy is dorsal root ganglia neuronal degeneration and secondary loss of posterior column myelinated axons. 7,12,13 The autonomic pathology of CANVAS is less well understood; and, to our knowledge, this is the first study describing the histopathology of sudomotor nerves in CANVAS.…”

Section: Discussionmentioning

confidence: 99%

“…7 The underlying pathology for the sensory neuronopathy is dorsal root ganglia neuronal degeneration and secondary loss of posterior column myelinated axons. 7,12,13 The autonomic pathology of CANVAS is less well understood; and, to our knowledge, this is the first study describing the histopathology of sudomotor nerves in CANVAS. Skin biopsies from our patients revealed markedly reduced sweat gland innervation, suggesting a postganglionic process.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Sweat Gland Denervation in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)

Umeh

Polydefkis

Chaudhry

et al. 2016

Movement Disord Clin Pract

View full text Add to dashboard Cite

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a newly recognized disorder characterized by cerebellar ataxia, nonlength-dependent sensory impairment, and bilateral vestibular loss. Sudomotor dysfunction has been described in CANVAS; however, the underlying pathology is not well characterized. To describe novel histopathological features of this syndrome, 2 siblings are presented who had CANVAS with unique findings of sweat gland denervation. Skin biopsy testing was performed to assess sudomotor structure and revealed markedly reduced sweat gland nerve fiber density below the 2.5th percentile in both patients. These histopathological findings suggest that postganglionic sudomotor dysfunction is an additional feature of CANVAS.Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized disorder characterized by cerebellar ataxia, nonlength-dependent sensory impairment, and bilateral vestibular loss. 1,2 Sudomotor dysfunction is recognized in patients with CANVAS; however, the underlying pathophysiology has not been fully elucidated. 3,4 To describe novel histopathological features of this syndrome, we present 2 siblings who had CANVAS with unique findings of sweat gland denervation. Case Series Case 1A woman aged 63 years presented with a 12-year history of numbness in the lower extremities, a 10-year history of slowly progressive gait ataxia, and a 3-year history of dysarthria. She reported decreased sweating and chronic cough. She had a history of hypertension and seizures. Her examination was notable for spontaneous downbeat nystagmus, impaired vestibulo-ocular reflex on head impulse testing, dysarthria, moderate to severe appendicular dysmetria, and severe gait ataxia. Sensory examination revealed decreased pinprick sensation in the face and lower extremities. She had 3+ reflexes in the upper and lower extremities except for 1+ Achilles reflexes. Case 2The sibling of case 1, a man aged 60 years, presented with a 15-year history of slowly progressive gait ataxia and a 2-year history of dysarthria. He reported generalized lack of sweating and chronic cough. He had a history of bradycardia status post pacemaker placement. His examination showed gaze-evoked horizontal nystagmus, impaired vestibulo-ocular reflex on head impulse testing, dysarthria, moderate appendicular dysmetria, and markedly ataxic gait. On sensory examination, he had decreased pinprick sensation in the lower extremities. He had 3+ reflexes in the upper and lower extremities except for 2+ Achilles reflexes. ResultsLaboratory tests for several causes of ataxia, including vitamin deficiencies, infectious causes, and autoimmune causes, were

show abstract

“…The presented patient showed a combination of the cerebellar oculomotor signs, like gaze evoked nystagmus, downbeat nystagmus, saccadic pursuit and dysmetric saccades, while absence of the VOR indicated the presence of bilateral vestibulopathy. However, good MRI findings without signs of peripheral sensory neuropathy were in concordance with a slowly progressive form of this syndrome [4,5]. Autoimmune and paraneoplastic cerebellar ataxia were excluded with laboratory tests.…”

Section: Discussionmentioning

confidence: 85%

Central and peripheral vestibular signs simultaneously present in a patient with instability: A case report

Pavlović¹

2019

Med pregl

View full text Add to dashboard Cite

Introduction. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome is a rare neurodegenerative disease with instability as the main presenting symptom. Patients with this syndrome often present with central and peripheral vestibular signs. This slowly progressive disease usually starts after 60 years of age and it takes 11 years to diagnose it. Case Report. Here I present a 62-year-old woman with instability lasting for 7 years, but deteriorating in the last two years with two episodes of falls, diplopia when looking to the right, paresthesia in the extremities and clumsiness with hands. Clinical examination revealed dysarthria, positive Romberg test, left hand dysmetria, gaze evoked and downbeat nystagmus, positive head impulse test, absent vestibulo-ocular reflex at video head impulse test, no response to caloric stimulation, no smooth pursuit and dysmetric and prolonged saccades at videonystagmography, positive visually enhanced vestibulo ocular reflex test, normal head magnetic resonance imaging, subclinical signs of polyneuropathy at electroneurography and negative autoimmune and paraneoplastic cerebellar antibodies. Conclusion. Instability is the first symptom in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Easy to perform, positive visually enhanced vestibulo-ocular reflex test points to a concomitant central and peripheral vestibular disorder. Negative autoimmune and paraneoplastic antibodies rule out other cerebellar diseases. However, normal head magnetic resonance imaging findings without expressed signs of peripheral sensory neuropathy are in concordance with a slowly progressive form of this syndrome.

show abstract

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Abstract: We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction.

Cited by 40 publications

References 15 publications

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

Sweat Gland Denervation in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)

Central and peripheral vestibular signs simultaneously present in a patient with instability: A case report

Contact Info

Product

Resources

About