Ataxias –An Overview with Indian perspective



 Dr Suvojit Bhowmik DMDr Ashok Kumar Kayal, ProfessorDr.(Prof) Shyamal Kumar Das, DM2


Department(s) and institution(s):

1. Department of Neurology, Gauhati Medical College and Hospital, Guwahati, Assam, India

2. Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West-e,  


Corresponding author:

Name: Dr. Suvorit Bhowmick

Address: Department of Neurology, Gauhati Medical College and Hospital, Bhangagarh, Guwahati – 781032.


Ataxia is a clinical syndrome of imbalance and incoordination due to pathology in the cerebellum, spinocerebellar pathways, pontocerebellar pathways or afferent proprioceptive inputs (sensory ataxia).1 This overview focuses on cerebellar ataxias, with emphasis on Indian research.

In the 1950s, Greenfield attempted a clinicopathological classification of ataxic disorders, such as olivopontocerebellar atrophy, cerebellar cortical atrophy and spinocerebellar degeneration. Anita Harding recognized pitfalls in the classification, wherein hereditary disorder in a single family often had to be assigned to different categories. Her classification of ataxia in the 1980s, based on clinical criteria, renewed the interest of neurologists in ataxia and paved way for molecular techniques to identify numerous gene loci responsible for ataxia syndromes. Currently, ataxias can be divided into three major groups: hereditary ataxias, non-hereditary degenerative ataxias and acquired ataxias (Table 1).2 Autosomal recessive inheritance is likely in patients with early onset ataxia (before the age of 25 years) and healthy parents. A familial disorder affecting successive generations is suggestive of autosomal dominant ataxia. Reaching a diagnosis becomes quite challenging in adult onset sporadic ataxia wherein the entire spectrum of non-genetic and genetic causes needs consideration.3


Sporadic cerebellar ataxias

Acute onset cerebellar ataxia is a diagnostic and therapeutic emergency, when one must consider cerebellar stroke, cerebellar abscess, meningitis, vitamin B1 deficiency and drug intoxication. When cerebellar ataxia has subacute to chronic onset and is progressive, the differential diagnosis includes cerebellar tumor, paraneoplastic syndrome, Creutzfeldt–Jakob disease, Whipple’s disease, celiac disease, autoimmune thyroiditis, ataxia associated with autoantibodies to glutamic acid decarboxylase, and neurodegenerative diseases like multiple system atrophy.4


Autosomal recessive cerebellar ataxias (ARCAs)

Friedreich’s ataxia (FRDA) is characterized by early-onset progressive gait and limb ataxia, dysarthria, ocular fixation instability, loss of vibration and proprioceptive sense, areflexia and pyramidal signs. Other manifestations include cardiomyopathy, diabetes mellitus, scoliosis and pes cavus. Progressive cerebellar atrophy does not occur.5 In most of the patients, there is triplet GAA expansion within the first intron of the frataxin gene found on chromosome 9q13.6 FRDA is found in individuals of European, North African, Middle Eastern or Indian origin.7 Its prevalence and carrier frequency in the Caucasians are about 1 per 50,000 and 1 per 85 respectively. Linkage disequilibrium studies have found a common haplotype with the expanded alleles and normal alleles having a higher number of GAA repeats (large normal [LN] alleles).8 While LN alleles account for 17% of the normal alleles in Caucasians, their frequency in India is lower (6%).8,9 A study from East India identified the same common founder haplotype (ATCC) reported worldwide for FRDA patients. In addition, a new haplotype (ACCT) was identified, probably of Indian origin. It has been postulated that FRDA mutation in North India arose from a pre-existing pool of pre-mutation alleles introduced through European migration and in South India through admixture of populations.10 Recent studies from India have explored mitochondrial genome variation and potential role of circulating cell-free nuclear DNA and mitochondrial DNA in blood plasma as biomarkers in patients of FRDA.11,12

ARCAs which can mimic FRDA are ataxia with vitamin E deficiency (AVED), abetalipoproteinemia and Refsum’s disease.13 In addition to ataxia, there may be retinitis pigmentosa and cardiomyopathy in AVED. Most of the patients are from North Africa, Europe, North America and Japan.14 The neurological manifestations of abetalipoproteinemia are similar toataxia with vitamin E deficiency ( AVED) . There is also lipid malabsorption, hypocholesterolaemia and acanthocytosis. It is a rare disorder with a frequency of less than 1/100,000.15 The clinical features of Refsum’s disease include ataxia, peripheral polyneuropathy, sensorineural deafness, retinitis pigmentosa, anosmia, skeletal abnormalities, ichthyosis, renal failure, cardiac myopathy and arrhythmias.16 Patients of AVED and abetalipoproteinemia have been reported from India, albeit without genetic confirmation.17,18

Some ARCAs can be distinguished from FRDA by the presence of cerebellar atrophy on neuroimaging.13 Late onset Tay-Sachs disease (juvenile onset or adult onset forms) is characterized by ataxia, areflexia, proximal muscle weakness, muscle atrophy, fasciculations, psychiatric and behavioral problems. There can be spasticity, seizures and dementia in the juvenile onset form. The disease is common in  Ashkenazi Jews.19 Clinical manifestations of cerebrotendinous xanthomatosis (CXT) include ataxia, peripheral neuropathy, pyramidal signs, extrapyramidal signs, seizures, psychiatric problems, dementia, cataracts, tendon xanthomas, early atherosclerosis, osteoporosis and diarrhea. While the disease has predilection for Jews of Moroccan origin, several cases have been reported from India.20,21 Mitochondrial recessive ataxia syndrome (MIRAS) is a common cause of ataxia in Finland. There can be additional peripheral neuropathy, myoclonus, epilepsy, psychiatric features, myopathy and ophthalmoplegia.22 Spinocerebellar ataxia with axonal neuropathy, characterized by ataxia, peripheral axonal sensorimotor neuropathy, distal amyotrophy and pes cavus, is found in Saudi Arabia.23

ARCAs which have earlier age of onset than FRDA and prominent cerebellar atrophy on neuroimaging include Ataxia telangiectasia (AT), AT-like disorder, ataxia with oculomotor apraxia (AOA), type 1 and type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), infantile-onset spinocerebellar ataxia (IOSCA), Cayman ataxia (CA) and Marinesco-Sjögren’s syndrome (MSS).13 AT is reported from all over the world. Clinical features include ataxia, oculomotor abnormalities, extrapyramidal features, mucocutaneous telangiectasia, recurrent sinopulmonary infections, radiosensitivity and predisposition to cancers.13,24 AOA type 1 is the most common ARCA in Japan and is also reported from Europe and North Africa.25 AOA type 2 is probably the second most common autosomal recessive ataxia after FRDA in Europe.26 ARSACS is found in Northeast Canada, Europe, Eurasia, North Africa and Japan.13 IOACS is seen in Finland.27 CA is found in Grand Cayman Island in the Caribbean. With the exception of AT and ARSACS, these disorders have not been reported from India.28,29 A study from National Institute of Mental Health and Neurosciences, Bengaluru is probably the largest study on AT from India. In their cohort of 100 patients, findings other than ataxia and telangiectasia included impaired pursuit and slow saccades (60%), ocular apraxia (84%), nystagmus (23%), extrapyramidal signs (31%) and hyporeflexia (61%). Low immunoglobulin levels were found in 15/28 (53.6%) and elevated alpha fetoprotein levels in 39/47(83.0%) patients.30


Autosomal dominant cerebellar ataxias (ADCAs)

Spinocerebellar ataxias (SCAs) comprise a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. To date, 40 SCAs have been described.31 The most common ones are due to CAG repeat expansions in the coding regions of the respective genes (SCAs 1, 2, 3, 6, 7 and 17). Geographic distribution and important clinical features of some SCAs are listed in Tables 2 and 3 respectively. In most cases, symptoms appear in the third to fifth decade. Neuroimaging studies show cerebellar atrophy with variable brainstem, supratentorial and spinal cord involvement. Cerebellar atrophy is more progressive in SCAs due to repeat expansions than due to point mutations. The phenomenon of anticipation occurs due to progressive repeat expansion at every parent-child transmission. Occasionally anticipation is so extreme in SCA7 and SCA2 that infantile cases occur in apparently asymptomatic parents. SCAs 8, 10, 12, 31 and 36 are due to non-coding repeat expansions, which have lesser tendencies for anticipation. SCA8 is linked to an expanded CTG repeat. The remaining SCAs are due to point mutations or deletions in the respective genes. ADCAs not in the SCA classification are dentatorubral-pallidoluysian atrophy (DRPLA), neuroferritinopathy, prion diseases, Alexander disease and adult-onset leukodystrophies.32

Much research on ataxia in India has been on SCAs, pioneered by Noshir Hormusjee Wadia. In 1971, Wadia and Swami described nine Indian families with a form of spinocerebellar degeneration different from the previously described hereditary ataxias of the West. The key distinguishing features were slow saccades and peripheral neuropathy.33 Neuroimaging showed olivopontocerebellar atrophy. It was subsequently classified as SCA2.34 Slow saccades have also been found, less commonly, in other SCAs.35 The major studies on SCAs from different regions of India are shown in Figure 1.34-46

SCA1, SCA2 and SCA3 have been found in many regions of India, although SCA1 is more common in South India and SCA3 in the Bengalis of East India.37,39,40 A study from East India found that the frequency of LN alleles at SCA2 locus in Indian population was intermediate between the Caucasians and the Japanese.36

SCA6 was thought to be uncommon India. However, a recent study from East India found its frequency to be 13.3% in patients with possible SCAs.35,47

The frequency of SCA7 in India is low. Based on CAG repeat analysis in healthy individuals, a study from North India found that the ethnic population of IE-N-LP2 (from the Indian Genetic Consortium) is predisposed to SCA7.45 However, SCA7 has also been reported in a in a girl of ethnic tribe from Northeast India and in a family from South India.48,49 There are possibly multiple founders of the disease because a common haplotype is not shared by different SCA7 families across the world, there are possibly multiple founders of the disease.50

SCA12 was first reported in an American family of German descent.51 The rest of the reported families are of Indian descent, majority of which belong to the Agarwal community. A common haplotype was found associated with majority of expanded chromosomes in affected families, suggesting a founder effect. This haplotype was different from the American family.44

SCA17 has been reported in three families of Indian descent.52,53


X-linked ataxia

Fragile X-associated Tremor/Ataxia syndrome (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset gait ataxia, autonomic dysfunction and/or cognitive impairment.54 A recent study from North India found three cases of FXTAS amongst 109 patients of late onset cerebellar ataxia and/or tremor.55


Episodic ataxias (EAs)

            EAs are autosomal dominant ataxias characterized by intermittent attacks of ataxia accompanied variably by dysarthria, vertigo and nystagmus.56 Seven subtypes have been described, which can be distinguished clinically by the duration of ataxia and associated manifestations.57 There have been few case reports from India, one of them being a genetically confirmed case of EA2.58, 59, 60



Ataxia can be the presentation of myriad diseases. Therefore, localization and classification are important to facilitate diagnosis. The investigations need to focus on the treatable causes of ataxia (AVED, abetalipoproteinemia, Refsum’s disease, CXT, Niemann-Pick type C, ARCA type 2 due to coenzyme Q10 deficiency).4 Family history is important to identify hereditary ataxias, as the affected patients will need genetic counseling. One must be careful in diagnosis, as hereditary ataxias may have sporadic presentation.



1.      Subramony SH. Approach to ataxic diseases. Handb Clin Neurol. 2012; 103: 127-34.

2.      Klockgether T, Paulson H. Milestones in ataxia. Mov Disord. 2011 May; 26 (6): 1134-41.

3.      Klockgether T. Sporadic ataxia with adult onset: classification and diagnostic criteria. Lancet Neurol. 2010 Jan; 9 (1): 94-104.

4.      Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012 Feb 16; 366 (7): 636-46.

5.      Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981 Sep; 104 (3): 589-620.

6.      Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8; 271 (5254): 1423-7.

7.      Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology. 2000 Jun 27; 54 (12): 2322-4.

8.      Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, et al. Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations. Proc Natl Acad Sci USA 1997; 94: 7452–57.

9.      Mukerji M, Choudhry S, Saleem Q, Padma MV, Maheshwari MC, Jain S. Molecular analysis of Friedreich's ataxia locus in the Indian population. Acta Neurol Scand. 2000 Oct; 102 (4): 227-9.

10.  Chattopadhyay B, Gupta S, Gangopadhyay PK, Das SK, Roy T, Mukherjee SC, et al. Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. Ann Hum Genet. 2004 May; 68 (Pt 3): 189-95.

11.  Singh I, Faruq M, Padma MV, Goyal V, Behari M, Grover A, et al. Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients. Mitochondrion. 2015 Nov; 25: 1-5.

12.  Dantham S, Srivastava AK, Gulati S, Rajeswari MR. Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia. J Neurol Sci. 2016 Jun 15; 365: 82-8.

13.  Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007 Mar; 6 (3): 245-57.

14.  Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb; 62 (2): 301-10.

15.  Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: Two case reports and literature review. Orphanet J Rare Dis 2008; 3: 19.

16.  Wills AJ, Manning NJ, Reilly MM. Refsum's disease. QJM. 2001 Aug; 94 (8): 403-6.

17.  Jayaram S, Soman A, Tarvade S, Londhe V. Cerebellar ataxia due to isolated vitamin E deficiency. Indian J Med Sci. 2005 Jan; 59 (1): 20-3.

18.  Nagappa M, Bindu PS, Adwani S, Seshagiri SK, Saini J, Sinha S, et al. Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. Ann Indian Acad Neurol 2014; 17: 113-6.

19.  Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb; 7 (2): 119-23.

20.  Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000 May; 123 (Pt 5): 908-19.

21.  Gaikwad S B, Garg A, Mishra N K, Gupta V, Srivastava A, Sarkar C. Cerebrotendinous xanthomatosis: Neuroimaging findings in two siblings from an Indian family . Neurol India 2003; 51: 401-3.

22.  Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005 Sep; 77 (3): 430-41. Epub 2005 Jul 27.

23.  Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 2002 Oct; 32 (2): 267-72. Epub 2002 Sep 16.

24.  McKinnon PJ. ATM and ataxia telangiectasia. EMBO Reports. 2004; 5 (8): 772-776.

25.  Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet. 2001 Oct; 29 (2): 184-8.

26.  Le Ber I, Bouslam N, Rivaud-Péchoux S, Guimarães J, Benomar A, Chamayou C, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004 Apr; 127 (Pt 4): 759-67.

27.  Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15; 14 (20): 2981-90. Epub 2005 Aug 31.

28.  Sharma A, Buxi G, Yadav R, Kohli A. Ataxia telangiectasia: A report of two cousins and review of literature. Indian Journal of Medical and Paediatric Oncology. 2011; 32(4): 217-222.

29.  Menon M S, Shaji C V, Kabeer K A, Parvathy G. SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India. Arch Med Health Sci 2016;4:122-4

30.  Manjunath M, Santhosh DV, Netravathi M, Ravi Y, Pal PK. Clinical profile of hundred patients with ataxia telangiectasia from India. Parkinsonism and Related Disorders, 2016-01-01, Volume 22, Pages e153-e154.

31.  Sun YM, Lu C, Wu ZY. Spinocerebellar ataxia: relationship between phenotype and genotype - a review. Clin Genet. 2016 May 25.

32.  Pandolfo M, Manto M. Cerebellar and afferent ataxias. Continuum (Minneap Minn). 2013 Oct; 19 (5 Movement Disorders): 1312-43.

33.  Wadia NH, Swami RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain. 1971; 94 (2): 359-74.

34.  Wadia N, Pang J, Desai J, Mankodi A, Desai M, Chamberlain S. A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. Brain. 1998 Dec; 121 (Pt 12): 2341-55.

35.  Pulai D, Guin DS, Bhattacharyya KB, Ganguly G, Joardar A, Roy S, Biswas A, Pandit A, Roy A, Senapati AK. Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India. Ann Indian Acad Neurol 2014; 17: 387-91

36.  Basu P, Chattopadhyay B, Gangopadhaya PK, Mukherjee SC, Sinha KK, Das SK, et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet. 2000 Jun; 106 (6): 597-604.

37.  Chakravarty A, Mukherjee SC. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - An Eastern Indian state. Acta Neurol Scand 2002; 105: 202-8.

38.  Sinha KK, Worth PF, Jha DK, Sinha S, Stinton VJ, Davis MB, et al. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J Neurol Neurosurg Psychiatry. 2004 Mar; 75 (3): 448-52.

39.  Rengaraj R, Dhanaraj M, Arulmozhi T, Chattopadhyay B, Battacharyya NP. High prevalence of spinocerebellar ataxia type 1 in an ethnic Tamil community in India. Neurol India 2005; 53: 308-10.

40.  Krishna N, Mohan S, Yashavantha BS, Rammurthy A, Kiran Kumar HB, Mittal U, Tyagi S, et al. SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India. Indian J Med Res. 2007 Nov; 126 (5): 465-70.

41.  Khadilkar SV, Dabi R, Dhonde P, Nadkarni N, Kulkarni S, Sarnath D. Trinucleotide repeat spinocerebellar ataxias: Experience of a tertiary care centre in Western India with review of Indian literature. Neurology Asia 2012; 17: 213-7.

42.  Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet. 2000 Feb; 106 (2): 179-87.

43.  Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol. 2001 Dec; 50 (6): 796-800.

44.  Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, et al. Evidence of a common founder for SCA12 in the Indian population. Ann Hum Genet. 2005 Sep; 69 (Pt 5): 528-34.

45.  Faruq M, Srivastava AK1, Singh S, Gupta R, Dada T, Garg A, Behari M, et al. Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population. Indian J Med Res. 2015 Feb; 141 (2): 187-98.

46.  Sharma S, Singh TD, Poojary SS, Rohilla MS, Singh A, Lowalekar KB, et al. Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India. Indian J Hum Genet. 2012 Sep; 18 (3): 299-304.

47.  Bhattacharyya KB, Pulai D, Guin DS, Ganguly G, Joardar A, Roy S, et al. Spinocerebellar ataxia type 6 in eastern India: Some new observations. Ann Indian Acad Neurol 2016; 19: 360-6.

48.  Kayal AK, Goswami M, Das M, Masaraf H. A case of spinocerebellar ataxia from ethnic tribe of Assam. Ann Indian Acad Neurol 2011; 14: 122-3.

49.  Wali GM. Spinocerebellar ataxia type 7: Report of an Indian family. Ann Indian Acad Neurol 2013; 16: 708-11.

50.  Stevanin G, David G, Dürr A, Giunti P, Benomar A, Abada-Bendib M, et al. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). Eur J Hum Genet. 1999 Dec; 7 (8): 889-96.

51.  Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, et al. Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. (Letter) Nature Genet. 23: 391-392, 1999.

52.  Hire RR, Katrak SM, Vaidya S, Radhakrishnan K, Seshadri M. Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions. Clin Genet. 2011 Nov; 80 (5): 472-7.

53.  Haubenberger D, Prayer D, Bauer P, Pirker W, Zimprich A, Auff E. Spinocerebellar ataxia type 17 in a patient from an Indian kindred. J Neurol. 2006 Nov; 253 (11): 1513-5.

54.  Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain. 2006 Jan; 129 (Pt 1): 243-55.

55.  Faruq M, Srivastava AK2, Suroliya V3, Kumar D3, Garg A4, Shukla G, et al. Identification of FXTAS presenting with SCA 12 like phenotype in India. Parkinsonism Relat Disord. 2014 Oct; 20 (10): 1089-93.

56.  Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007 Oct; 130 (Pt 10): 2484-93.

57.  Kipfer S, Strupp M. The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias. Movement Disorders Clinical Practice 2014 Dec; 1 (4): 285-290.

58.  Singhvi JP, Prabhakar S, Singh P. Episodic ataxia: a case report and review of literature. Neurol India 2000; 48: 78-80.

59.  Eunson LH, Davies NP, Wadia NH, Bhatia KP, Hanna MG. A new calcium channel mutation causes late onset progressive ataxia. J Neurol Sci 2001; Suppl to 187: S520, p1528 Abstract.

60.  Mugundhan K, Thiruvarutchelvan K, Sivakumar S. Familial episodic ataxia type II. J Assoc Physicians India. 2011 Oct; 59: 668-70.


Movement Disorders Society of India
National Institute of Mental Health and Neuro Sciences (NIMHANS)
Hosur Road /
Bangalore - 560029
Karnataka, India.


MDSI Webeditor

Dr. Prashanth LK,
Website Editor,
Movement disorders society of India, Apollo Hospitals, Bangalore.
Email :



© Movement Disorders Society of India 2012 - 2018, All rights reserved.
Back to Top