Data di Pubblicazione:
2016
Citazione:
Amyotrophic lateral sclerosis causes small fiber pathology / E. Dalla Bella, R. Lombardi, C. Porretta-serapiglia, C. Ciano, C. Gellera, V. Pensato, D. Cazzato, G. LAURIA PINTER. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1468-1331. - 23:2(2016 Feb), pp. 416-420. [10.1111/ene.12936]
Abstract:
Background and purpose: Our aim was to address the correlation between
small fiber loss and amyotrophic lateral sclerosis (ALS) for disease onset, phenotype,
genotype, duration, severity and sensory findings.
Methods: Consecutive patients referred for suspected ALS were screened.
Exclusion criteria were possible ALS and previous diagnosis or known risk
factors for small fiber neuropathies. A sural nerve conduction study (NCS)
was bilaterally recorded. The ALS functional rating scale revised was administered
and loss of functions were calculated using the MilanoTorino staging
(MITOS) system. Sensory symptoms and signs were recorded. Genetic analysis
was performed by the next-generation sequencing approach. Skin biopsy was
performed at the distal leg and intraepidermal nerve fiber (IENF) density was
quantified in three non-consecutive sections following published guidelines.
Findings were referred to age- and sex-adjusted normative values.
Results: Fifty-seven patients including six with facial onset sensory and motor
neuronopathy (FOSMN) were enrolled. Eight (15.7%) pure ALS patients and
five (83%) FOSMN patients complained of sensory disturbances with different
distributions. Sural NCS was normal in all except two patients. IENF density
was reduced in 75.4% of pure ALS and 50% of FOSMN patients, without
correlation with any disease features. IENF density was similarly reduced in
bulbar (78.5%), flail limb (87.5%), pyramidal (100%), and spinal (68.2%)
onset, as well as in genetic (83.3%) and sporadic (82%) ALS. There was no
correlation with genotype, disease duration and severity.
Conclusions: Intraepidermal nerve fiber loss is a feature of most ALS patients.
It does not correlate with onset, phenotype, course and severity of the disease,
and cannot be considered a clinical or prognostic biomarker.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
amyotrophic lateral disease; intraepidermal nerve fiber density; motor neuron disease; neuropathic pain; skin biopsy; small fiber neuropathy
Elenco autori:
E. Dalla Bella, R. Lombardi, C. Porretta-serapiglia, C. Ciano, C. Gellera, V. Pensato, D. Cazzato, G. LAURIA PINTER
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