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

Ključne reči: amiotrofijska lateralna skleroza;, dijagnoza;, geni;, histološke tehnike;, mutacija;, bojenje preparata;, superoksid dismutaza

Sažetak

Uvod. Postoje izveštaji o histopatološkim nalazima različitih inkluzija u centralnom nervnom sistemu kod bolesnika sa amiotrofičnom lateralnom sklerozom (ALS), ali ne i u perifernim nervima. Prikaz bolesnika. Prikazan je bolesnik star 66 godina sa slabošću donjih ekstremiteta, kasnijim razvojem slabosti i gornjih ekstremiteta i gubitkom kontrole sfinktera. Neurološkim pregledom utvrđeni su znakovi oštećenja i gornjeg i donjeg motornog neurona. Pored parestezija leve strane tela, bolesnik je osećao i utrnulost sa distribucijom po tipu „čarapa”. Histopatološkom analizom suralnog nerva i genetskim analizama utvrđene su bazofilne periodic acid-Schiff (PAS)-pozitivne inkluzije unutar aksona i heterozigotna mutacija L144F u egzonu 5 SOD1 gena. Zaključak. Prisustvo bazofilnih inkluzija u perifernom nervu može ukazati na dijagnozu SOD1-pozitivne ALS.

Reference

800x600

Normal

0

false

EN-US

X-NONE

MicrosoftInternetExplorer4

DefSemiHidden="false" DefQFormat="false" DefPriority="99"

LatentStyleCount="371">

UnhideWhenUsed="true" QFormat="true" Name="heading 2"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 3"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 4"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 5"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 6"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 7"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 8"/>

UnhideWhenUsed="true" QFormat="true" Name="heading 9"/>

Name="index 1"/>

Name="index 2"/>

Name="index 3"/>

Name="index 4"/>

Name="index 5"/>

Name="index 6"/>

Name="index 7"/>

Name="index 8"/>

Name="index 9"/>

UnhideWhenUsed="true" Name="toc 1"/>

UnhideWhenUsed="true" Name="toc 2"/>

UnhideWhenUsed="true" Name="toc 3"/>

UnhideWhenUsed="true" Name="toc 4"/>

UnhideWhenUsed="true" Name="toc 5"/>

UnhideWhenUsed="true" Name="toc 6"/>

UnhideWhenUsed="true" Name="toc 7"/>

UnhideWhenUsed="true" Name="toc 8"/>

UnhideWhenUsed="true" Name="toc 9"/>

Name="Normal Indent"/>

Name="footnote text"/>

Name="annotation text"/>

Name="header"/>

Name="footer"/>

Name="index heading"/>

UnhideWhenUsed="true" QFormat="true" Name="caption"/>

Name="table of figures"/>

Name="envelope address"/>

Name="envelope return"/>

Name="footnote reference"/>

Name="annotation reference"/>

Name="line number"/>

Name="page number"/>

Name="endnote reference"/>

Name="endnote text"/>

Name="table of authorities"/>

Name="macro"/>

Name="toa heading"/>

Name="List"/>

Name="List Bullet"/>

Name="List Number"/>

Name="List 2"/>

Name="List 3"/>

Name="List 4"/>

Name="List 5"/>

Name="List Bullet 2"/>

Name="List Bullet 3"/>

Name="List Bullet 4"/>

Name="List Bullet 5"/>

Name="List Number 2"/>

Name="List Number 3"/>

Name="List Number 4"/>

Name="List Number 5"/>

Name="Closing"/>

Name="Signature"/>

UnhideWhenUsed="true" Name="Default Paragraph Font"/>

Name="Body Text"/>

Name="Body Text Indent"/>

Name="List Continue"/>

Name="List Continue 2"/>

Name="List Continue 3"/>

Name="List Continue 4"/>

Name="List Continue 5"/>

Name="Message Header"/>

Name="Salutation"/>

Name="Date"/>

Name="Body Text First Indent"/>

Name="Body Text First Indent 2"/>

Name="Note Heading"/>

Name="Body Text 2"/>

Name="Body Text 3"/>

Name="Body Text Indent 2"/>

Name="Body Text Indent 3"/>

Name="Block Text"/>

Name="Hyperlink"/>

Name="FollowedHyperlink"/>

Name="Document Map"/>

Name="Plain Text"/>

Name="E-mail Signature"/>

Name="HTML Top of Form"/>

Name="HTML Bottom of Form"/>

Name="Normal (Web)"/>

Name="HTML Acronym"/>

Name="HTML Address"/>

Name="HTML Cite"/>

Name="HTML Code"/>

Name="HTML Definition"/>

Name="HTML Keyboard"/>

Name="HTML Preformatted"/>

Name="HTML Sample"/>

Name="HTML Typewriter"/>

Name="HTML Variable"/>

Name="Normal Table"/>

Name="annotation subject"/>

Name="No List"/>

Name="Outline List 1"/>

Name="Outline List 2"/>

Name="Outline List 3"/>

Name="Table Simple 1"/>

Name="Table Simple 2"/>

Name="Table Simple 3"/>

Name="Table Classic 1"/>

Name="Table Classic 2"/>

Name="Table Classic 3"/>

Name="Table Classic 4"/>

Name="Table Colorful 1"/>

Name="Table Colorful 2"/>

Name="Table Colorful 3"/>

Name="Table Columns 1"/>

Name="Table Columns 2"/>

Name="Table Columns 3"/>

Name="Table Columns 4"/>

Name="Table Columns 5"/>

Name="Table Grid 1"/>

Name="Table Grid 2"/>

Name="Table Grid 3"/>

Name="Table Grid 4"/>

Name="Table Grid 5"/>

Name="Table Grid 6"/>

Name="Table Grid 7"/>

Name="Table Grid 8"/>

Name="Table List 1"/>

Name="Table List 2"/>

Name="Table List 3"/>

Name="Table List 4"/>

Name="Table List 5"/>

Name="Table List 6"/>

Name="Table List 7"/>

Name="Table List 8"/>

Name="Table 3D effects 1"/>

Name="Table 3D effects 2"/>

Name="Table 3D effects 3"/>

Name="Table Contemporary"/>

Name="Table Elegant"/>

Name="Table Professional"/>

Name="Table Subtle 1"/>

Name="Table Subtle 2"/>

Name="Table Web 1"/>

Name="Table Web 2"/>

Name="Table Web 3"/>

Name="Balloon Text"/>

Name="Table Theme"/>

Name="List Paragraph"/>

Name="Intense Quote"/>

Name="Subtle Emphasis"/>

Name="Intense Emphasis"/>

Name="Subtle Reference"/>

Name="Intense Reference"/>

UnhideWhenUsed="true" Name="Bibliography"/>

UnhideWhenUsed="true" QFormat="true" Name="TOC Heading"/>

Name="Grid Table 1 Light Accent 1"/>

Name="Grid Table 6 Colorful Accent 1"/>

Name="Grid Table 7 Colorful Accent 1"/>

Name="Grid Table 1 Light Accent 2"/>

Name="Grid Table 6 Colorful Accent 2"/>

Name="Grid Table 7 Colorful Accent 2"/>

Name="Grid Table 1 Light Accent 3"/>

Name="Grid Table 6 Colorful Accent 3"/>

Name="Grid Table 7 Colorful Accent 3"/>

Name="Grid Table 1 Light Accent 4"/>

Name="Grid Table 6 Colorful Accent 4"/>

Name="Grid Table 7 Colorful Accent 4"/>

Name="Grid Table 1 Light Accent 5"/>

Name="Grid Table 6 Colorful Accent 5"/>

Name="Grid Table 7 Colorful Accent 5"/>

Name="Grid Table 1 Light Accent 6"/>

Name="Grid Table 6 Colorful Accent 6"/>

Name="Grid Table 7 Colorful Accent 6"/>

Name="List Table 1 Light Accent 1"/>

Name="List Table 6 Colorful Accent 1"/>

Name="List Table 7 Colorful Accent 1"/>

Name="List Table 1 Light Accent 2"/>

Name="List Table 6 Colorful Accent 2"/>

Name="List Table 7 Colorful Accent 2"/>

Name="List Table 1 Light Accent 3"/>

Name="List Table 6 Colorful Accent 3"/>

Name="List Table 7 Colorful Accent 3"/>

Name="List Table 1 Light Accent 4"/>

Name="List Table 6 Colorful Accent 4"/>

Name="List Table 7 Colorful Accent 4"/>

Name="List Table 1 Light Accent 5"/>

Name="List Table 6 Colorful Accent 5"/>

Name="List Table 7 Colorful Accent 5"/>

Name="List Table 1 Light Accent 6"/>

Name="List Table 6 Colorful Accent 6"/>

Name="List Table 7 Colorful Accent 6"/>

/* Style Definitions */

table.MsoNormalTable

{mso-style-name:"Table Normal";

mso-tstyle-rowband-size:0;

mso-tstyle-colband-size:0;

mso-style-noshow:yes;

mso-style-priority:99;

mso-style-parent:"";

mso-padding-alt:0cm 5.4pt 0cm 5.4pt;

mso-para-margin:0cm;

mso-para-margin-bottom:.0001pt;

mso-pagination:widow-orphan;

font-size:10.0pt;

font-family:"Times New Roman",serif;}

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.

Bazofilne inkluzije u perifernom nervu kod bolesnika sa L144F SOD1 amiotrofičnom lateralnom sklerozom

Sažetak

Reference