MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

MENU 
  • Home
  • Meetings Archive
    • 2024 International Congress
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

Spinocerebellar Ataxia Type 5: an Unusual Infantile Onset with Development Delay

S. Gallo, L. Magistrelli, E. Contaldi, I C. Campini, R. Cantello, C. Comi (Novara, Italy)

Meeting: 2022 International Congress

Abstract Number: 416

Keywords: Ataxia: Genetics, Spinocerebellar ataxias(SCA)

Category: Ataxia

Objective: Spinocerebellar Ataxia Type 5 (SCA5) is an uncommon cause of cerebellar ataxia with onset generally within the third and the fourth decade and a slow progressive course. It is caused by heterozygous mutations of SPTBN2 gene.

Background: Here we present the case of a 23 years-old woman who came to the Emergency Room for the sudden onset of disabling facial tics (sniffing). The neurological examination revealed an ataxic gait, slurred speech mild bilateral dysdiadochokinesia, lateral and vertical nystagmus, hypometric saccades and oligophrenia. Furthermore, the mother reported a delay in the acquisition of motor and cognitive functions, particularly, the patient couldn’t walk until she was 7 years-old and she needed a teacher’s aide while attending primary and secondary school. The family history was negative. A cerebral CT scan showed a severe cerebellar atrophy particularly involving the vermis.

Method: A cerebral CT scan showed a severe cerebellar atrophy particularly involving the vermis.

Results: A whole genome sequencing analysis was performed, detecting an heterozygotic SPTBN2 mutation (p. 271s, exon 8), absent in the parents and in the two siblings. That mutation has not yet been described but the in-silico analysis defined it as likely pathogenetic.

Conclusion: This is a very unusual case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation: the presence of a global developmental delay and oligophrenia make it more similar to SPARCA1, caused by homozygotic mutations of SPTBN2. Furthermore, to the best of our knowledge, no other cases of SCA5 with facial tics have been described, thus broadening the clinical spectrum of this rare condition.

SCA

References: Elsayed, S. M., Heller, R., Thoenes, M., Zaki, M. S., Swan, D., Elsobky, E., Zühlke, C., Ebermann, I., Nürnberg, G., Nürnberg, P., & Bolz, H. J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. European Journal of Human Genetics, 22(2), 286–288. https://doi.org/10.1038/ejhg.2013.150
Manto, M., Gandini, J., Feil, K., & Strupp, M. (2020). Cerebellar ataxias: An update. Current Opinion in Neurology, 33(1), 150–160. https://doi.org/10.1097/WCO.0000000000000774

To cite this abstract in AMA style:

S. Gallo, L. Magistrelli, E. Contaldi, I C. Campini, R. Cantello, C. Comi. Spinocerebellar Ataxia Type 5: an Unusual Infantile Onset with Development Delay [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/spinocerebellar-ataxia-type-5-an-unusual-infantile-onset-with-development-delay/. Accessed May 13, 2025.
  • Tweet
  • Email
  • Print

« Back to 2022 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/spinocerebellar-ataxia-type-5-an-unusual-infantile-onset-with-development-delay/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
  • Covid vaccine induced parkinsonism and cognitive dysfunction
  • What is the appropriate sleep position for Parkinson's disease patients with orthostatic hypotension in the morning?
  • An Apparent Cluster of Parkinson's Disease (PD) in a Golf Community
  • The hardest symptoms that bother patients with Parkinson's disease
  • Life expectancy with and without Parkinson’s disease in the general population
  • Patients with Essential Tremor Live Longer than their Relatives
  • #23624 (not found)
  • The hardest symptoms that bother patients with Parkinson's disease
  • Three cases of early tremor in the course of Guillain-Barré Syndrome
  • The impact of gastric acid suppressants and antacids on levodopa plasma concentration in patients with Parkinson’s disease
  • To be or not to bupropion: a drug-induced parkinsonism?
  • The Role of MRI and DaTscan in Vascular Parkinsonism: A Case Report
  • Help & Support
  • About Us
  • Cookies & Privacy
  • Wiley Job Network
  • Terms & Conditions
  • Advertisers & Agents
Copyright © 2025 International Parkinson and Movement Disorder Society. All Rights Reserved.
Wiley