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Table of Contents    
Year : 2017  |  Volume : 65  |  Issue : 5  |  Page : 1153-1155

Spinocerebellar ataxia type 2 associated with amyotrophic lateral sclerosis

Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Date of Web Publication6-Sep-2017

Correspondence Address:
Ushakant Misra
Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareily Road, Lucknow - 226 014, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/neuroindia.NI_910_16

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How to cite this article:
Singh RK, Sonkar KK, Bhoi S, Kalita J, Misra U. Spinocerebellar ataxia type 2 associated with amyotrophic lateral sclerosis. Neurol India 2017;65:1153-5

How to cite this URL:
Singh RK, Sonkar KK, Bhoi S, Kalita J, Misra U. Spinocerebellar ataxia type 2 associated with amyotrophic lateral sclerosis. Neurol India [serial online] 2017 [cited 2020 Feb 25];65:1153-5. Available from:


Coexistence of spinocerebellar ataxia (SCA) and amyotrophic lateral sclerosis (ALS) is rare. We report a patient with SCA 2 who developed ALS.

A 59-year old man had progressive imbalance and dysarthria for 10 years, and six years later, he developed progressive quadriparesis, pseudobulbar affect and bulbar weakness. He was diabetic for 22 years, and his brother had SCA-2. The patient had bilateral ptosis, fasciculations, wasting of hand and tongue, mild quadriparesis and bilateral cerebellar signs [Figure 1]a and [Figure 1]b. Blood counts, hemoglobin and serum chemistry were normal. The electrodiagnostic study was consistent with ALS. Cranial magnetic resonance imaging (MRI) revealed cerebellar atrophy [Figure 1]c. Genetic analysis was consistent with SCA-2 (ATXN2 gene [gene coding for spinocerebellar ataxia type 2 protein, ataxin-2] approximately 22, 37 CAG [cytosine-adenine-guanine] repeats).
Figure 1: (a) Wasting of hand muscles with clawing. (b) Tongue wasting. (c) Cerebellar atrophy

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This patient is the 6th case of SCA-2 with ALS [Table 1]. Our patient was confirmed as SCA-2 by genetic testing, and ALS by clinical and electromyography (EMG) findings. The protein synthesized by ATXN2 is known as ataxin-2, which is involved in ribonucleic acid metabolism and translation regulation. In SCA-2, TAR DNA [trans-activation response element deoxyribonucleic acid] binding protein 43 (TDP-43) is abnormally localized in the brain. In ALS, ATXN2 is abnormally localized in the spinal cord neurons, suggesting a relationship between SCA-2 and ALS. In animal and cellular models, ATXN2 is a modifier of TDP-43 toxicity.[1] CAG repeat expansion in ATXN2 can increase the pathological form of TDP-43 by enhancing C-terminal cleavage and phosphorylated TDP-43.[2]
Table 1: Cases of SCA2 with motor neuron disease

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We searched the literature for an association between SCA-2 and motor neuron disease/ALS and found only five such cases .[3],[4],[5],[6],[7] In a study by Elden et al.,[1]ATXN2 intermediate-length polyglutamine expansions was associated with an increased risk for ALS. Intermediate (27-33) and full CAG expansion (>34) are rarely associated with ALS.[1] It is unclear why pathologic expansion of >32 CAG repeats of ATXN2 gene leads to Parkinson's disease and ALS rarely with cerebellar ataxia. In the autopsy studies of SCA-2 patients, there is a neuronal loss in substantia nigra with relatively preserved striatum. This could account for the levodopa responsive Parkinsonian features in SCA-2.[8] A morphometric analyses in 11 autopsies of SCA-2 revealed reduction of lumbar (33-83% of normal) and thoracic motor neurons (27-64%), but a definite correlation between SCA-2 and ALS could not be established.[8] Toxic protein accumulation and its improper localisation may result in neuronal death and overlapping clinical features.


We thank Mr. Shakti Kumar for secretarial help.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010;466:1069-75.  Back to cited text no. 1
Hart MP, Gitler AD. ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. J Neurosci 2012;32:9133-42.  Back to cited text no. 2
Infante J, Berciano J, Volpini V, Corral J, Polo JM, Pascual J, Combarros O. Spinocerebellar ataxia type 2 with levodopa-responsive Parkinsonism culminating in motor neuron disease. Mov Disord 2004;19:848-52.  Back to cited text no. 3
Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, et al. Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA Neurology 2013;70:1302-4.  Back to cited text no. 4
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, et al. Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 2004;19:622-9.  Back to cited text no. 5
Nanetti L, Fancellu R, Tomasello C, Gellera C, Pareyson D, Mariotti C. Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): A new case and review of the literature. J Neurol 2009;256:1926-8.  Back to cited text no. 6
Braga-Neto P, Pedroso JL, Felício AC, Abrahão A, Dutra LA, Bezerra MLE, Barsottini OGP. SCA2 presenting as an ataxia-Parkinsonism-motor neuron disease syndrome. Arquivos de Neuro-Psiquiatria 2011;69:405-6.  Back to cited text no. 7
Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G Spinocerebellar ataxia 2 (SCA2): Morphometric analyses in 11 autopsies. Acta Neuropathol 1999;97:306-10.  Back to cited text no. 8


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  [Table 1]

This article has been cited by
1 Commentary: Amyotrophic lateral sclerosis: Ongoing search for prognostic biomarkers of longevity
Sanjay Pandey,Neelav Sarma
Neurology India. 2017; 65(5): 1155
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