Neuropediatrics 2021; 52(S 01): S1-S53
DOI: 10.1055/s-0041-1739600
Poster Abstracts

Nerve Conduction Studies in Children and Young Adults with Ataxia Telangiectasia

M. Theis
1   Division of Pediatric Neurology, Department for Children and Adolescents, Goethe University, Frankfurt, Germany
,
H. Donath
2   Division of Allergology, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany
,
S. Woelke
2   Division of Allergology, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany
,
S. Zielen
2   Division of Allergology, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany
,
M. Kieslich
1   Division of Pediatric Neurology, Department for Children and Adolescents, Goethe University, Frankfurt, Germany
› Author Affiliations
› Further Information
 

Background: Ataxia telangiectasia (A-T) is a rare autosomal recessively inherited neurodegenerative multisystemic disease that is characterized by cerebellar ataxia, immunodeficiency, and chromosomal instability. However, extrapyramidal movement disorders und peripheral neuropathy may also be present.[1] [2]

Currently, there are no curative therapy options. Various systemic therapies, stem cell transplantation, gene therapy, or immunomodulators are being tested.

The neurodegenerative process of A-T is well described.[3] However, knowledge about the affection of the peripheral nervous system is still very limited.

The goal of this study was to examine patients with genetically proven A-T via nerve conduction studies (NCS) in order to assess the course of peripheral neuropathy in A-T.

Methods:

Study design: prospective cohort study.

Patients: 43 A-T patients (39 classical, 1 patient in the conditioning phase prior to stem cell transplantation, 1 patient after allogenic stem cell transplantation, 2 variant). Age range: 1–37 years.

Control Group: age- and gender-matched.

Clinical Evaluation: neurostatus, ataxia scores (SARA, Klockgether, ESFAT-C).

Electrophysiology: motor and sensory nerve conduction studies (median + tibial nerves).

Results: In comparison to the control group decline of sensory nerve amplitudes (median + tibial nerves) could be detected as early as with 2 years old. Delayed sensory nerve conduction velocities were detected with 3 years old (tibial nerve) and with 7 years old (median nerve).

Decline in motor amplitudes were detected with 5 years old (tibial nerve) and 8 years old (median nerve). Delayed motor nerve conduction velocities were detected with 6 years old (tibial nerve) and 10 years old (median nerve).

Peripheral neuropathy in A-T correlates with increasing age and increasing severity of the ataxia.

Conclusions: The affection of the peripheral nervous system in A-T has been described mostly in older children. However, through electrophysiological examination peripheral neuropathy can be detected at very young age.

Due to lack of causal therapy conservative & supportive treatments are at the foreground currently.

On the other hand, the affection of the peripheral nervous system should be taken as much into consideration as it is the case with the cerebellar, cerebral and spinal affection of A-T regarding the development of therapeutic options.



Publication History

Article published online:
28 October 2021

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