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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome(CANVAS)

MedGen UID:
482853
Concept ID:
C3281223
Disease or Syndrome
Synonyms: CANVAS; Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
SNOMED CT: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (1236804009); Cerebellar ataxia with bilateral vestibulopathy syndrome (1236804009); CANVAS - cerebellar ataxia, neuropathy, vestibular areflexia syndrome (1236804009); CABV (cerebellar ataxia, bilateral vestibulopathy) syndrome (1236804009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): RFC1 (4p14)
 
Monarch Initiative: MONDO:0044720
OMIM®: 614575
Orphanet: ORPHA504476

Definition

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011). [from OMIM]

Clinical features

From HPO
Absent Achilles reflex
MedGen UID:
108240
Concept ID:
C0558845
Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Vestibular areflexia
MedGen UID:
863489
Concept ID:
C4015052
Finding
Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.
Hearing abnormality
MedGen UID:
871365
Concept ID:
C4025860
Finding
An abnormality of the sensory perception of sound.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Abnormal autonomic nervous system physiology
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Abnormal rapid eye movement sleep
MedGen UID:
488885
Concept ID:
C0392188
Finding
Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Axonal loss
MedGen UID:
316962
Concept ID:
C1832338
Finding
A reduction in the number of axons in the peripheral nervous system.
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Decreased distal sensory nerve action potential
MedGen UID:
870474
Concept ID:
C4024920
Finding
A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Downbeat nystagmus
MedGen UID:
154401
Concept ID:
C0585544
Finding
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
Saccadic smooth pursuit
MedGen UID:
373096
Concept ID:
C1836479
Finding
An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
Impaired horizontal smooth pursuit
MedGen UID:
355793
Concept ID:
C1866753
Finding
An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Professional guidelines

PubMed

Szmulewicz DJ, McLean CA, MacDougall HG, Roberts L, Storey E, Halmagyi GM
J Vestib Res 2014;24(5-6):465-74. doi: 10.3233/VES-140536. PMID: 25564090

Recent clinical studies

Etiology

Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH
Brain 2020 Sep 1;143(9):2673-2680. doi: 10.1093/brain/awaa203. PMID: 32851396Free PMC Article
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ
Am J Hum Genet 2019 Jul 3;105(1):151-165. Epub 2019 Jun 20 doi: 10.1016/j.ajhg.2019.05.016. PMID: 31230722Free PMC Article
Szmulewicz DJ, McLean CA, MacDougall HG, Roberts L, Storey E, Halmagyi GM
J Vestib Res 2014;24(5-6):465-74. doi: 10.3233/VES-140536. PMID: 25564090
Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
Ann N Y Acad Sci 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. PMID: 21950986
Szmulewicz DJ, Waterston JA, Halmagyi GM, Mossman S, Chancellor AM, McLean CA, Storey E
Neurology 2011 May 31;76(22):1903-10. doi: 10.1212/WNL.0b013e31821d746e. PMID: 21624989Free PMC Article

Diagnosis

Palones E, Curto E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A
J Neurol 2024 Mar;271(3):1204-1212. Epub 2023 Nov 2 doi: 10.1007/s00415-023-12001-9. PMID: 37917234Free PMC Article
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Taki M, Nakamura T, Matsuura H, Hasegawa T, Sakaguchi H, Morita K, Ishii R, Mizuta I, Kasai T, Mizuno T, Hirano S
Auris Nasus Larynx 2018 Aug;45(4):866-870. Epub 2017 Oct 28 doi: 10.1016/j.anl.2017.10.008. PMID: 29089158
Szmulewicz DJ, Seiderer L, Halmagyi GM, Storey E, Roberts L
Muscle Nerve 2015 Apr;51(4):600-3. Epub 2015 Jan 5 doi: 10.1002/mus.24422. PMID: 25130975
Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
Ann N Y Acad Sci 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. PMID: 21950986

Prognosis

Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
Ann N Y Acad Sci 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. PMID: 21950986

Clinical prediction guides

Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article

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