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Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8
Published online by Cambridge University Press: 02 December 2022
Abstract:
Background:
Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the nervous system that primarily affects motor neurons. ALS type 8 (ALS8) is a familiar form with predominant involvement of lower motor neurons, tremor, and slow progression.
Objective:
The aim of this study was to describe sensory involvement in a cohort of ALS8 patients and compare it with the characteristics of sporadic ALS (sALS) patients and controls.
Methods:
We compared data from 40 ALS8 and 10 sALS patients assessed by neurological evaluation and electrophysiological study. Skin biopsies were performed in these patients and 12 controls for analysis of intraepidermal nerve fiber (IENF) density by protein gene product 9.5 (PGP 9.5) immunohistochemistry.
Results:
The ALS8 group was younger than the sALS group at the onset of symptoms (p < 0.05) and had a longer disease evolution (p < 0.01). Sensory abnormalities were evident in 35% of the ALS8 and 30% of the sALS patients by neurological examination, and all ALS patients presented normal sensory nerve action potentials. Despite being similar in the ALS8 and sALS groups, IENF density in the ALS8 group was lower than that in the controls (p < 0.0005). In the ALS8 group, IENF density was significantly lower in patients with impairment of vibratory sensation than in those without this finding (p < 0.05) and in females than in males (p < 0.05).
Conclusion:
Sensory impairment and decreased IENF density are present in ALS8 patients at a frequency and intensity similar to that in the sALS group.
Résumé :
Les neuropathies à petites fibres et la sclérose latérale amyotrophique familiale de type 8.
La sclérose latérale amyotrophique (SLA) est une maladie dégénérative du système nerveux qui affecte principalement les neurones moteurs. La SLA de type 8 (SLA8) est une forme familiale de la maladie qui se manifeste par une atteinte marquée des neurones moteurs inférieurs, des tremblements et une évolution lente.
L’étude avait pour buts de caractériser l’atteinte sensorielle observée dans une cohorte patients souffrant de la SLA8 et de comparer les résultats obtenus avec les caractéristiques de la SLA sporadique (SLAs) chez des patients touchés ainsi que chez des témoins.
Il y a eu comparaison de données provenant de 40 patients atteints de la SLA8 et de 10 patients atteints de la SLAs, soumis à une évaluation neurologique et à un examen d’électrophysiologie. Une biopsie de la peau a été effectuée chez ces patients ainsi que chez 12 témoins pour analyse de la densité de fibres nerveuses intraépidermiques (FNIE) par immunohistochimie du produit du gène protéique 9.5.
Le groupe de sujets atteints de la SLA8 était plus jeune que le groupe de sujets atteints de la SLAs au moment de l’apparition des symptômes (p < 0,05) et les premiers ont connu une évolution plus longue de la maladie (p < 0,01) que les seconds. Des anomalies sensorielles manifestes ont été observées chez 35 % des patients atteints de la SLA8 et chez 30 % de ceux atteints de la SLAs à l’examen neurologique, et les potentiels d’action des nerfs sensitifs étaient normaux chez tous les patients atteints de la SLA. Certes, la densité de FNIE était comparable dans les deux groupes de malades atteints de la SLA, mais celle dans le groupe de la SLA8 était inférieure à celle enregistrée dans le groupe témoin (p < 0,0005). Plus précisément, la densité de FNIE dans le groupe SLA8 était sensiblement plus faible chez les patients atteints d’une déficience sensorielle vibratoire que chez ceux qui en étaient exempts (p < 0,05), de même que chez les femmes comparativement aux hommes. (p < 0,05).
Les patients atteints de la SLA8 connaissent une déficience sensorielle et une diminution de la densité des FNIE à une fréquence et à un degré d’intensité comparables à ceux observés chez les patients atteints de la SLAs.
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