Basophilic peripheral nerve inclusions in a patient with L144F SOD1 amyotrophic lateral sclerosis

Dejan Aleksić; Stojan Perić; Sanja Milenković; Milena Janković; Vidosava Rakočević-Stojanović; Zorica Stević

doi:10.2298/VSP210717097A

Dejan Aleksić University Clinical Center Kragujevac, Clinic of Neurology, Department of Neurology
Stojan Perić University Clinical Center of Serbia, Belgrade, Serbia
Sanja Milenković Clinical-Hospital Center Zemun, Belgrade, Serbia
Milena Janković University Clinical Center of Serbia, Belgrade, Serbia
Vidosava Rakočević-Stojanović University Clinical Center of Serbia, Belgrade, Serbia
Zorica Stević University Clinical Center of Serbia, Belgrade, Serbia

DOI: https://doi.org/10.2298/VSP210717097A

Keywords: amyotrophic lateral sclerosis;, diagnosis;, genes;, histological techniques;, mutation;, staining and labeling;, superoxide dismutase

Abstract

Introduction. Histopathological findings of various inclusions were reported in the central nervous system of amyotrophic lateral sclerosis (ALS) patients but not in the peripheral nerves. Case report. We present a 66-year-old man with lower limb weakness, with later development of weakness in the upper limbs and loss of sphincter control. Neurological examination showed the affection of both upper and lower motor neurons. He had paresthesia on the left side of his body and socks-distribution numbness. Histopathology of the sural nerve and genetic report showed basophilic periodic acid-Schiff (PAS)-positive intra-axonal inclusions and heterozygous L144F mutation in the exon 5 of the SOD1 gene. Conclusion. It seems that the presence of the basophilic peripheral nerve inclusions may suggest a diagnosis of SOD1-positive ALS.

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1. Mejzini R, Flynn LL, Pitout IL, Fletcher S, Wilton SD, Akkari PA. ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now? Front Neurosci 2019; 13: 1310.

2. Gentile F, Scarlino S, Falzone YM, Lunetta C, Tremolizzo L, Quattrini A, et al. The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research. Front Neurosci 2019; 13: 601.

3. Suzuki M, Yasui K, Ishikawai H, Nomura M, Watanabe T, Mikami H, et al. Familial amyotrophic lateral sclerosis with Cys111Tyr mutation in Cu/Zn superoxide dismutase showing widespread Lewy body-like hyaline inclusions. J Neurol Sci 2011; 300(1‒2): 182‒4.

4. Berkhoff M, Weis J, Schroth G, Sturzenegger M. Extensive white-matter changes in case of adult polyglucosan body disease. Neuroradiology 2001; 43(3): 234‒6.

5. Luigetti M, Conte A, Del Grande A, Bisogni G, Romano A, Sabatelli M. Sural nerve pathology in ALS patients: a single-centre experience. Neurol Sci 2012; 33(5): 1095‒9.

6. Giannini F, Battistini S, Mancuso M, Giuseppe G, Ricci C, Volpi N, et al. D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings. Amyotroph Lateral Scler 2010; 11(1‒2): 216‒9.

7. Milde P, Guccion JG, Kelly J, Locatelli E, Jones RV. Adult polyglucosan body disease. Arch Pathol Lab Med. 2001; 125(4): 519‒22.

8. Marjanović IV, Selak-Djokić B, Perić S, Janković M, Arsenijević V, Basta I, et al. Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia. J Neurol 2017; 264(6): 1091‒8.

9. Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol 2012; 72(3): 433‒41.

10. Forsberg K, Graffmo K, Pakkenberg B, Weber M, Nielsen M, Marklund S, et al. Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes. J Neurol Neurosurg Psychiatry 2019; 90(8): 861‒9.