Neurology department, French reference center for Multiple System Atrophy, CHU de Toulouse, Toulouse, France; I2MC Institute-Inserm U1297, Toulouse, France.
Bordeaux University, Inserm, Bordeaux Population Health Research Center, UMR1219, Bordeaux, France; Neurodegenerative Diseases Neurology Department, CHU de Bordeaux, IMNc, CRMR AMS, Bordeaux, France; Bordeaux University, CNRS, IMN, UMR 5293, Bordeaux, France.
Rev Neurol (Paris). 2024 Jan-Feb;180(1-2):94-100. doi: 10.1016/j.neurol.2023.11.003. Epub 2023 Dec 20.
Pure autonomic failure (PAF) is a neurodegenerative disease affecting the sympathetic component of the autonomic nervous system and presenting as orthostatic hypotension (OH). It is a rare, sporadic disease of adults. Although OH is the primary symptom, the autonomic dysfunction may be more generalised, leading to genitourinary and intestinal dysfunction and sweating disorders. Autonomic symptoms in PAF may be similar to those observed in other autonomic neuropathies that need to be ruled out. PAF belongs to the group of α synucleinopathies and is characterised by predominant peripheral deposition of α-synuclein in autonomic ganglia and nerves. However, in a significant number of cases, PAF may convert into another synucleinopathy with central nervous system involvement with varying prognosis: Parkinson's disease (PD), multiple system atrophy (MSA), or dementia with Lewy bodies (DLB). The clinical features, the main differential diagnoses, the risk factors for "phenoconversion" to another synucleinopathy as well as an overview of treatment will be discussed.
单纯自主神经衰竭（PAF）是一种影响自主神经系统交感成分的神经退行性疾病，表现为体位性低血压（OH）。它是一种罕见的、散发性的成人疾病。虽然 OH 是主要症状，但自主神经功能障碍可能更为广泛，导致泌尿生殖和肠道功能障碍以及出汗障碍。PAF 的自主症状可能与其他需要排除的自主神经病变观察到的症状相似。PAF 属于α突触核蛋白病组，其特征是自主神经节和神经中α-突触核蛋白的主要外周沉积。然而，在相当数量的病例中，PAF 可能会转化为另一种伴有中枢神经系统受累的突触核蛋白病，预后不一：帕金森病（PD）、多系统萎缩（MSA）或路易体痴呆（DLB）。本文将讨论其临床特征、主要鉴别诊断、向另一种突触核蛋白病“表型转化”的风险因素以及治疗概述。
