Article

Autonomic innervation in multiple system atrophy and pure autonomic failure.

Department of Neurological Sciences, University of Bologna, Bologna, Italy.
Journal of neurology, neurosurgery, and psychiatry (Impact Factor: 4.87). 12/2010; 81(12):1327-35. DOI: 10.1136/jnnp.2009.198135
Source: PubMed

ABSTRACT Pure autonomic failure (PAF) and multiple system atrophy (MSA) are both characterised by chronic dysautonomia although presenting different disability and prognosis. Skin autonomic function evaluation by indirect tests has revealed conflicting results in these disorders. Here, the authors report the first direct analysis of skin sympathetic fibres including structure and function in PAF and MSA to ascertain different underlying autonomic lesion sites which may help differentiate between the two conditions.
The authors studied eight patients with probable MSA (mean age 60±5 years) and nine patients fulfilling diagnostic criteria for PAF (64±8 years). They underwent head-up tilt test (HUTT), extensive microneurographic search for muscle and skin sympathetic nerve activities from peroneal nerve and punch skin biopsies from finger, thigh and leg to evaluate cholinergic and adrenergic autonomic dermal annexes innervation graded by a semiquantitative score presenting a high level of reliability.
MSA and PAF patients presented a comparable neurogenic orthostatic hypotension during HUTT and high failure rate of microneurographic trials to record sympathetic nerve activity, suggesting a similar extent of chronic dysautonomia. In contrast, they presented different skin autonomic innervation in the immunofluorescence analysis. MSA patients showed a generally preserved skin autonomic innervation with a significantly higher score than PAF patients showing a marked postganglionic sympathetic denervation. In MSA patients with a long disease duration, morphological abnormalities and/or a slightly decreased autonomic score could be found in the leg reflecting a mild postganglionic involvement.
Autonomic innervation study of skin annexes is a reliable method which may help differentiate MSA from PAF.

0 Bookmarks
 · 
187 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Introduction: Fibromyalgia (FM) is a chronic syndrome characterized by widespread pain often accompanied by other symptoms suggestive of neuropathic pain. We evaluated patients for small fiber neuropathy (SFN) who were referred for fibromyalgia (FM). Methods: We studied 20 consecutive subjects with primary FM. Patients underwent neurological examination, nerve conduction studies, and skin biopsies from distal leg and thigh. Results: Electrodiagnostic studies were normal in all patients. SFN was diagnosed in 6 patients by reduced epidermal nerve fiber density. These patients also showed abnormalities of both adrenergic and cholinergic fibers. Conclusion: A subset of FM subjects have SFN, which may contribute to their sensory and autonomic symptoms. Skin biopsy should be considered in the diagnostic work-up of FM. Muscle Nerve, 2014.
    Muscle & Nerve 12/2013; · 2.31 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Pure autonomic failure (PAF) is a progressive autonomic neurodegenerative disorder. Cold induced sweating occurred in syndromes with mutations in CRLF1 and CLCF1 genes and in a case of cervical dissection. A patient with PAF developed sweating induced by cool ambient temperatures. He had severe orthostatic hypotension, abnormal cardiovagal reflexes, and paradoxical sweating in the upper trunk at a room temperature of 18°C. Skin biopsy showed involvement of somatic epidermal unmyelinated nerve fibers. Quantitative sensory testing showed abnormal thresholds to all thermal modalities. Possible mechanisms include cold induced noradrenaline release in remaining autonomic innervation and a supersensitive sudomotor response.
    Autonomic neuroscience: basic & clinical 03/2013; · 1.82 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Multiple system atrophy (MSA) is an α-synucleinopathy that is clinically characterized by varying degrees of parkinsonian, autonomic, and cerebellar features. Unlike other α-synucleinopathies such as Parkinson's disease, MSA is unique in that the principal α-synuclein lesions, called glial cytoplasmic inclusions, occur in oligodendroglia rather than neurons, with significantly more α-synuclein accumulating in MSA brain compared with Parkinson's disease. Although well defined clinically, the molecular pathophysiology of MSA has barely been investigated. In particular, there have been no systematic studies of the perturbation of the brain transcriptome during the onset and progression of this disease. Interestingly, measurements of α-synuclein gene (SNCA) expression in MSA brain tissue have not revealed overexpression of this gene in oligodendroglia or neurons. It has therefore become clear that other genes and gene networks, both directly as noncoding RNAs or through protein products, contribute to the accumulation of the α-synuclein protein in the brain. This review provides a summary of current developments in the investigation of the transcriptional causes of MSA and outlines perspectives for future research toward the elucidation of the molecular pathology of MSA-specific neurodegeneration.
    Neurobiology of Aging 08/2014; · 6.17 Impact Factor

Full-text (2 Sources)

Download
43 Downloads
Available from
May 31, 2014