BACKGROUND: In autosomal dominant cerebellar ataxias (ADCAs), it is unclear whether the associated peripheral nerve involvement is always a typical length-dependent axonopathy rather than primary neuronopathy due to neuronal degeneration in the spinal anterior horns and/or dorsal root ganglia. OBJECTIVE: To study the nature and extent of peripheral nerve involvement in patients with ADCA. PATIENTS AND METHODS: Standardized clinical and electrophysiologic studies of 27 genotyped patients with ADCA were conducted prospectively, with special emphasis on the distinction between primary neuronopathy and dying-back axonopathy. RESULTS: Electrophysiologic evidence of involvement of the peripheral nervous system was present in 70% of patients. Findings were compatible with dying-back axonopathy in 30%, while in 40% of patients, neuronopathy was diagnosed. Patients with spinocerebellar ataxia (SCA) 1 and SCA2 mostly displayed features of neuronopathy, while patients with SCA3 and SCA7 displayed both neuronopathy and axonopathy. In SCA6, no significant peripheral nerve involvement was demonstrated. We did not observe an influence of age, disease duration, or ataxia severity on the presence or type of peripheral nerve involvement. CONCLUSIONS: Peripheral nerve involvement in ADCA manifests not only as distal axonal neuropathy, but also as primary neuronopathy. Electrodiagnostic studies in this group of patients should be conducted in such a way that primary neuronopathy is detected.
BACKGROUND: In autosomal dominant cerebellar ataxias (ADCAs), it is unclear whether the associated peripheral nerve involvement is always a typical length-dependent axonopathy rather than primary neuronopathy due to neuronal degeneration in the spinal anterior horns and/or dorsal root ganglia. OBJECTIVE: To study the nature and extent of peripheral nerve involvement in patients with ADCA. PATIENTS AND METHODS: Standardized clinical and electrophysiologic studies of 27 genotyped patients with ADCA were conducted prospectively, with special emphasis on the distinction between primary neuronopathy and dying-back axonopathy. RESULTS: Electrophysiologic evidence of involvement of the peripheral nervous system was present in 70% of patients. Findings were compatible with dying-back axonopathy in 30%, while in 40% of patients, neuronopathy was diagnosed. Patients with spinocerebellar ataxia (SCA) 1 and SCA2 mostly displayed features of neuronopathy, while patients with SCA3 and SCA7 displayed both neuronopathy and axonopathy. In SCA6, no significant peripheral nerve involvement was demonstrated. We did not observe an influence of age, disease duration, or ataxia severity on the presence or type of peripheral nerve involvement. CONCLUSIONS: Peripheral nerve involvement in ADCA manifests not only as distal axonal neuropathy, but also as primary neuronopathy. Electrodiagnostic studies in this group of patients should be conducted in such a way that primary neuronopathy is detected.
Authors: W Ilg; M Branscheidt; A Butala; P Celnik; L de Paola; F B Horak; L Schöls; H A G Teive; A P Vogel; D S Zee; D Timmann Journal: Cerebellum Date: 2018-10 Impact factor: 3.847
Authors: Christoph Linnemann; Sophie Tezenas du Montcel; Maryla Rakowicz; Tanja Schmitz-Hübsch; Sandra Szymanski; Jose Berciano; Bart P van de Warrenburg; Karine Pedersen; Chantal Depondt; Rafal Rola; Thomas Klockgether; Antonio García; Gurkan Mutlu; Ludger Schöls Journal: Cerebellum Date: 2016-04 Impact factor: 3.847
Authors: Anna De Rosa; Sabina Pappatà; Teresa Pellegrino; Maria Fulvia De Leva; Gennaro Maddaluno; Giovanni Fiumara; Raffaella Carotenuto; Mario Petretta; Alessandro Filla; Giuseppe De Michele; Alberto Cuocolo Journal: Eur J Nucl Med Mol Imaging Date: 2013-08-09 Impact factor: 9.236
Authors: H Jacobi; M Rakowicz; R Rola; R Fancellu; C Mariotti; P Charles; A Dürr; M Küper; D Timmann; C Linnemann; L Schöls; O Kaut; C Schaub; A Filla; L Baliko; B Melegh; J-S Kang; P Giunti; B P C van de Warrenburg; R Fimmers; T Klockgether Journal: Cerebellum Date: 2013-06 Impact factor: 3.847