Objective: To describe a case of progressive gait abnormalities and bulbar dysfunction which was associated with genetic mutation and neuroimaging findings representative of spinocerebellar ataxia (SCA) subtype

Background: SCA type 34 is an autosomal dominant disorder with typical onset during young adulthood with slow progression. This may involve skin manifestations in addition to nystagmus, dysarthria as well as ataxia

Method: A 65 year old woman presented to the clinic for trouble with her gait as well as speech. Her earliest symptoms included difficulty with riding a bike at 30 years of age. Around her mid-50s she developed trouble with speech, swallowing as well as double vision. She needed support of a cane for ambulation.  Age 60 years of age she transitioned to a walker due to worsening gait problems and falls. By the time she was seen at our clinic she had developed autonomic dysfunction including, bowel and bladder incontinence. On further investigation she had family history of similar issues in her daughter, mother, maternal aunt, maternal grandmother and maternal great aunt. On examination patient was noted to have gaze evoked nystagmus and square wave jerk on right and left gaze. She had reduced optokinetic response in vertical and horizontal directions. Her gait was wide based with ataxia and she used a walker to ambulate. Patient had 4/5 strength on bilateral hip flexion and bilateral foot drop. She had significant dysmetria on finger to nose testing and finger chasing. There was trace bradykinesia on finger tapping and hand movements. She had hyperreflexia throughout. Her exam was asymmetric with worsened findings on the left side

Results: MRI brain revealed cerebellar and brainstem atrophy with “Hot cross bun sign”. Whole exome sequencing revealed heterozygous missense variant in elongation of very long-chain fatty acids-like 4 (ELOVL4), coding DNA: c.736 T>G,  p. (W246G)

Conclusion: To our knowledge this is the second case report that identifies individual with ELVOL4 mutation without erythrokeratodermia [1]. Patient also had hot cross bun sign which is commonly identified with multiple system atrophy. This case exemplifies the varied phenotype associated with this mutation

References: [1] Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K. A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34. JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610. PMID: 26010696.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hot-cross-bun-sign-in-progressive-ataxia-with-elvol4-mutation/