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Think of SCA45 in Late‐Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant

An 82-year-old male patient presented with insidious onset and slowly progressive imbalance during walking over a period of the last 20 years. He also suffered from recurrent bouts of bullous pemphigoid for the last 30 years and developed hearing dif ﬁ culty for the last 3 years. He had a strong family history of late onset gait imbalance involving his mother, four of his elder brothers, and two of their daughters (Fig. 1). The only surviving affected elder brother is now 89 years old and having gait imbalance since his late 70s and hearing dif ﬁ culty for the last 5 years. Two of his affected nieces had gait imbalance since their late 50s and mother had the same problem since her late 70s. All of them had hearing problems along with gait issues. There was no history of vertigo or chronic cough in any of the affected family members. On examination, the index patient had horizontal gaze evoked nystagmus and ataxic dysarthria. Dysmetria was evident on ﬁ nger-to-nose test and heel-knee-shin test. Gait was broad based with marked ataxia (Video 1 ). He could not perform tandem gait. Tone and power were normal in all four limbs. Stretch re ﬂ exes were normal. No evidence of bradykinesia or postural hypotension noted. Brain magnetic resonance imaging (MRI) revealed diffuse cerebellar and cortical atrophy (Fig. 2). Pure tone audiometry revealed bilateral moderate sensorineural hearing loss. With a provisional diagnosis of genetic ataxia syndrome, spinocerebellar ataxia (SCA) panel was sent and reported negative. Whole exome revealed a heterozygous missense vari-ation in exon 9 of the FAT2 gene 198x) results in the amino acid substitution of Methionine to Threonine at codon 1705 (p.Met1705Thr; ENST00000261800.5). The p.Met1705Thr variant has not been reported in the 1000 genomes and gnomAD databases. The in silico predictions of the variant are damaging by SIFT and MutationTaster2. The same variant was detected by Sanger