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Papers of the Week

Papers: 26 Nov 2022 - 2 Dec 2022

Human Studies

2022 Nov 27

Eur J Neurol

Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes.


Igharo D, Thiel JC, Rolke R, Akkaya M, Weis J, Katona I, Schulz JB, Maier A
Eur J Neurol. 2022 Nov 27.
PMID: 36437696.


Ehlers-Danlos syndromes are hereditary disorders of connective tissue that are characterized by joint hypermobility, skin hyperextensibility and tissue fragility. The most common subtype is the hypermobile type. In addition to symptoms of small fibre neuropathy (SFN) due to damage to the small peripheral nerve fibres with degeneration of the distal nerve endings, autonomic disorders such as postural tachycardia syndrome are frequently reported features in patients with hypermobile Ehlers-Danlos syndromes (hEDS). To date, the underlying pathophysiological mechanisms are still not completely understood.