Damage in SPG4 extends to nerves of the feet

Posted - February 2019 in Research Highlights

Measured by lack of sweating response

 

Damage in SPG4-HSP extends to the peripheral nervous system, especially in the feet, but also in the hands in some cases. This was assessed by an abnormal sweating response.

 

Abstract

BACKGROUND AND PURPOSE: SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. There are few studies about non-motor manifestations in this disease and none about autonomic involvement. Therefore, the aim was to determine the frequency and pattern of autonomic complaints in patients with SPG4-HSP, as well as to determine the clinical relevance and the possible factors associated with these manifestations.

 

METHODS: Thirty-four molecularly confirmed SPG4 patients were recruited in a multicenter cross-sectional study, of whom 26 underwent detailed neurophysiological testing (heart rate variability, sympathetic skin response and the Quantitative Sudomotor Axonal Reflex Test). The Scales for Outcomes in Parkinson’s Disease – Autonomic Questionnaire (SCOPA-AUT) was applied to quantify the severity of autonomic symptoms. Results were compared with 44 age- and gender-matched healthy controls using non-parametric tests. P values <0.05 were considered significant.

 

RESULTS: In the SPG4-HSP group, there were 18 men with a mean age of 47.7 ± 12.6 years. SCOPA-AUT scores were similar between patients and controls (P = 0.238). Only the urinary domain subscore was significantly higher amongst patients (4 vs. 2.5, P = 0.05). Absent sympathetic skin response in the hands and feet was more frequent amongst patients (20% vs. 0%, P < 0.001, and 64% vs. 0%, P = 0.006, respectively). Quantitative Sudomotor Axonal Reflex Test responses were also smaller throughout all recording regions in the SPG4-HSP group.

 

CONCLUSION: Our results indicate that SPG4-HSP patients have sudomotor dysfunction caused by damaged small post-ganglionic cholinergic fibers. Damage in SPG4-HSP extends to the peripheral nervous system.

 

SOURCE: Eur J Neurol. 2018 Nov 29. doi: 10.1111/ene.13878. [Epub ahead of print] PMID: 30489674 © 2018 EAN.

 

Autonomic dysfunction in hereditary spastic paraplegia type 4

 

González-Salazar C1, Takazaki KAG1, Martinez ARM1, Pimentel-Silva LR1, Jacinto-Scudeiro LA2,3, Nakagawa ÉY4, Fujiwara Murakami CE4, Saute JAM2,3, Pedroso JL5, Barsottini OGP5, Teive HAG4, França MC Jr1.

 

1 Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

2 Medical Genetics and Neurology Services, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

3 Department of Internal Medicine and Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

4 Department of Internal Medicine, Neurology Service, Universidade Federal do Paraná, Curitiba, Brazil.

5 Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

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