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Year : 2014  |  Volume : 19  |  Issue : 1  |  Page : 62-64

Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 Department of Neurology, Kasturba Medical College Hospital, Manipal, Karnataka, India
2 Department of Ophthalmology, JJM Medical College, Davanagere, Karnataka, India

Date of Web Publication1-Feb-2014

Correspondence Address:
Anirudda Deshpande
Plot No. 37, HB Estate, Near Khamla Road, Sonegaon, Nagpur - 440 025, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-9903.126253

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy Here, we present a 28-year-old male patient with symptoms of gait instability, distal sensory loss and spasticity since 10 years of age with slow progression and is currently moderately disabled in his daily activities. His nerve conduction studies and neuroimaging were consistent with the diagnosis. Our emphasis would be on the specific magnetic resonance imaging features of the entity, which would help narrow down the genetic testing and provide the practitioner with a rather accurate diagnosis needed for prognostication and valuable counseling thereafter.

Keywords: Autosomal recessive spastic ataxia of Charlevoix-Saguenay ARSACS, Spastic Ataxia, Charlevoix Saguenay spastic ataxia

How to cite this article:
Pandi S, Deshpande A, Khardenavis S. Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Mahatma Gandhi Inst Med Sci 2014;19:62-4

How to cite this URL:
Pandi S, Deshpande A, Khardenavis S. Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Mahatma Gandhi Inst Med Sci [serial online] 2014 [cited 2022 Dec 5];19:62-4. Available from: https://www.jmgims.co.in/text.asp?2014/19/1/62/126253

  Introduction Top

The inherited ataxias are a complex group of neurodegenerative disorders. The clinical phenotype is characterized by a progressive cerebellar ataxia variably associated with neuropathy, ocular abnormalities, pyramidal and extra pyramidal signs, cognitive dysfunction and seizures. [1],[2]

Hereditary ataxias can be divided into autosomal dominant, recessive, X-linked and mitochondrial on the basis of the respective inheritance. Over 28 subtypes of dominantly inherited ataxias and innumerable recessively inherited ataxias have been described so far in this ever growing list of disorders. Establishing a precise diagnosis is important for clarifying the condition and its prognosis. However, the big hurdle in accurate diagnosis has long been the non-availability of genetic testing still for roughly 40% of inherited ataxias and non-specific clinical and neuroimaging features. Amongst this, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)is one with relatively specific magnetic resonance imaging (MRI) features, [3],[4],[5],[6] which would help a great deal in accurately diagnosing the condition.

  Case Report Top

A 28-year-old male patient presented with a history of unsteadiness while walking and frequent easy falls since 10 years of age. Almost simultaneously, he noted numbness initially distally in bilateral lower limbs, which progressed proximally over both legs and similar symptoms in the upper limbs with proximal progression 1-2 years after onset in lower limbs. He also reports symptoms of slurring of speech and upper limb incoordination in daily activities since 12 years of age. He also gives history consistent with wash basin symptom and progressively increasing difficulty walking in darkness since 12 years. In addition, since 13 years of age he has been having difficulty holding onto slippers with frequent slipping with and without the knowledge and difficulty mixing food and while buttoning and removing buttons. In addition, he has been experiencing progressively increasing stiffness in both lower limbs and tendency to trip while walking since 15 years of age. All these symptoms have been slowly progressive and he is currently moderately severely disabled needing assistance for walking and other daily needs.

Mentation was normal. Cranial nerve examination revealed slow hypometric saccades, mild bifacial weakness, dysarthria and horizontal gaze evoked nystagmus. Bilateral pes cavus deformity was noted but no kyphoscoliosis. Spinomotor examination showed normal neck and proximal upper limb power in shoulder and elbow and wrist. Bilateral small hand was moderately weak. Hip and knee power were normal with bilateral foot drop and ankle showing power 2/5 in dorsiflexion and 3/5 in plantar flexion while bilateral extensor hallucis longus and extensor digitorum breviswere 2/5. Deep tendon reflexes were brisk in upper and lower limbs,but bilateral ankle jerks were absent. Spasticity was present in bilateral lower limbs with left plantar extensor. Sensory examination revealed symmetrical proprioceptive loss in bilateral toes and fingers and graded sensory loss to pain below knee bilaterally. Cerebellar functions were abnormal showing dysdiadochokinesia and impaired finger nose and knee heel testing along with truncal and stance ataxia. Walking needed assistance with features of spasticity and ataxia.

Blood investigations revealed normal vit-E levels and absent acanthocytes in peripheral smear. Nerve conduction studies showed mixed axonal and demyelinating motor sensory neuropathy with decreased motor amplitudes in peroneal, tibial nerves, ulnar, median nerves bilaterally almost symmetrically and mildly prolonged latenciesand decreased velocities in sural,median nerves bilaterally. There was increased visibility of myelinated retinal nerve (as depicted in [Figure 1] below) fibers in our patient as a hallmark of ARSACS patients. MRI showed cerebellar superior vermian and cervical cord atrophy with T2 and fluid-attenuated inversion recoverylinear hypodensities in pons (as depicted in [Figure 2], [Figure 3], [Figure 4] below).
Figure 1: Retinal striations in this patient of autosomal recessive spastic ataxia of Charlevoix-Saguenay

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Figure 2: Coronal T2W magnetic resonance imagingbrain showing the same linear hypointensities in pons

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Figure 3: Axial T2W magnetic resonance imagingbrain imaging showing linear hypodensities in Pons characteristic of autosomal recessive spastic ataxia of Charlevoix-Saguenay

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Figure 4: Saggital T1W magnetic resonance imagingbrain showing significant cerebellar atrophy and high cervical cord thinning

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  Discussion Top

ARSACS is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. Initially described in the Charlevoix-Saguenay region of Quebec, Canada in 1978 by Martin MH et al. has been increasingly reported else where world-wide. [6] Individuals usually present with gait disturbance and walking difficulties. Other early signs of cerebellar ataxia include dysarthria and nystagmus. The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterizedby brisk tendon reflexes and the Babinski sign. Onset of the peripheral neuropathy generally occurs later and leads to the absence of the Achilles tendon reflex, distal amyotrophy and deep sensory disturbances (impaired vibration sense). Retinal hypermyelination (without vision loss) is a constant feature in ARSACS patients from Quebec but may be absent in patients from other countries. Other manifestations may include mitral valve prolapse, pescavus and bladder dysfunction. ARSACS is caused by autosomal recessive mutations in the SACS gene (13q11), which encodes a large protein of unknown function named sacsin. [7] Inical diagnosis relies on the results of neuroimaging studies (MRI and CT scans revealing atrophy of the upper cerebellar vermis and cervical spinal cord along with T2 and FLAIR hypodensities in pons) and neurophysiological data (signs of both axonal and demyelinating neuropathy, with nerve conduction studies revealing loss of sensory nerve conduction and reduced motor conduction velocities). Retinal examination may also be useful for diagnosis. Diagnosis can be confirmed by detection of SACS mutations. Differential diagnoses include other autosomal recessive ataxias, such as Friedrich ataxia and ataxia with vitamin E deficiency and hereditary forms of spastic paraplegia (see these terms), in particular spastic paraplegia 20 (SPG20- Troyer syndrome More Details). Prenatal diagnosis is possible when the disease-causing mutation has been identified and genetic counseling should be offered to affected families.

We wished to present this case with an intention to stress on the classical MRI findings [3],[4],[5],[6] which are specific to ARSACS and the need to promptly perform genetic analysis, if available, for SACS gene mutations in all cases of early onset ataxia.

  Conclusion Top

ARSACS initially described in Quebec, Canada has recently been described in other parts of the world too within creasing frequency. Amongst the list of inherited at a xi as with divergent clinical presentations and non-specific imaging features, ARSACS is one with relatively specific MRI features which would help a great deal inaccurately diagnosing the condition. Hence the compelling need to enhance the awareness among medical professional sabouttheentity which would lead to specific genetic testing and appropriate counseling, to help mankind build a future world with least disability, can't be overlooked.

  References Top

1.Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): Expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis 2013;8:41.  Back to cited text no. 1
2.Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: An overview. Parkinsonism RelatDisord 2011;17:418-22.  Back to cited text no. 2
3.Gerwig M, Krüger S, Kreuz FR, Kreis S, Gizewski ER, Timmann D. Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec. Neurology 2010;75:2133.  Back to cited text no. 3
4.Shimazaki H, Takiyama Y, Honda J, Sakoe K, Namekawa M, Tsugawa J, et al. Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS. J Neuroimaging 2013;23:82-5.  Back to cited text no. 4
5.Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, et al. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.Eur J Neurol 2013;20:138-46.  Back to cited text no. 5
6.Martin MH Bouchard JP, Sylvain M, St-Onge O, Truchon S. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A report of MR imaging in 5 patients. AJNR Am J Neuroradiol 2007;28:1606-8.  Back to cited text no. 6
7.Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): Novel compound heterozygous mutations in the SACS gene. J Neurol 2008;255:803-6.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

This article has been cited by
1 ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India
Raja A. H. Kuchay,Yaser Rafiq Mir,Xue Zeng,Asima Hassan,Javed Musarrat,Iqbal Parwez,Christoph Kernstock,Andreas Traschütz,Matthis Synofzik
The Cerebellum. 2019;
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