title: Identification of FXTAS presenting with SCA 12 like phenotype in India.
abstract: BACKGROUND
  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. We aimed to screen FMR1-CGG repeats in our cohort of progressive late-onset cerebellar ataxia/tremor cohort to characterize the occurrence of FXTAS in India.
  
  
  METHODS
  We have screened FMR1-CGG repeats in 109 patients and 173 healthy control subjects. Our cohort comprised: a)group of patients with predominant cerebellar ataxia and/or tremor. b.)suspected cases of MSA and c.)patients who presented SCA12-like neurological manifestations (late onset predominant tremor and/or ataxia). All the cases were ruled out for known triplet-repeat-expansion (TRE) SCA mutations.
  
  
  RESULTS
  We have found three FMR1-premutation carriers among the cases. Two of them (with CGG-96 and CGG-102) were under evaluation for their SCA12-like manifestations and another (CGG-78) had progressive gait ataxia. Overall the frequency of FXTAS in our cohort was found to be 3.3% among cases of late onset cerebellar-ataxia/tremor; however, incidences were higher among cases with SCA12-like syndrome (9%, 2/23).
  
  
  CONCLUSIONS
  Finding FXTAS in patients with SCA12-like manifestation suggests that TRE in the 5'UTR of the gene is the common cue connecting two disorders with common phenotype of tremor/ataxia. This knowledge might shed light upon their sharing of molecular neuropathology.
authors.affiliation: Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, (CSIR-IGIB), Mall Road, New Delhi 110007, India. Electronic address: faruq.mohd@igib.res.in.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Faruq
authors.affiliation: Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India. Electronic address: achalsrivastava@hotmail.com.
authors.forename: Achal K
authors.initials: AK
authors.lastname: Srivastava
authors.affiliation: Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Varun
authors.initials: V
authors.lastname: Suroliya
authors.affiliation: Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Deepak
authors.initials: D
authors.lastname: Kumar
authors.affiliation: Neuroradiology Department, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Ajay
authors.initials: A
authors.lastname: Garg
authors.affiliation: Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Garima
authors.initials: G
authors.lastname: Shukla
authors.affiliation: Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Madhuri
authors.initials: M
authors.lastname: Behari
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D054648:Protein Phosphatase 2 / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000503:physiopathology*; D014202:Tremor / Q000175:diagnosis* / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D054648:Protein Phosphatase 2; C497683:FMR1 protein, human; C505936:PPP2R2B protein, human
keywords: FXTAS; SCA12; Tremor and ataxia