1.
Parkinsonism Relat Disord
; 60: 184-185, 2019 03.
Article
in English
| MEDLINE
| ID: mdl-30220557
Subject(s)
Heredodegenerative Disorders, Nervous System/diagnosis , Adult , Heredodegenerative Disorders, Nervous System/genetics , Heredodegenerative Disorders, Nervous System/pathology , Heredodegenerative Disorders, Nervous System/physiopathology , Humans , Male , Neuroaxonal Dystrophies/diagnosis , Neuroaxonal Dystrophies/genetics , Neuroaxonal Dystrophies/pathology , Neuroaxonal Dystrophies/physiopathology
2.
Muscle Nerve
; 55(2): E7-E8, 2017 02.
Article
in English
| MEDLINE
| ID: mdl-27491039
Subject(s)
Friedreich Ataxia/physiopathology , Ganglia, Sensory/physiopathology , Neural Conduction/physiology , Peripheral Nerves/physiopathology , Aged , Female , Humans , Late Onset Disorders , Male , Median Nerve/physiopathology , Middle Aged , Peroneal Nerve/physiopathology , Radial Nerve/physiopathology , Sensation/physiology , Sural Nerve/physiopathology , Ulnar Nerve/physiopathology
3.
Amyotroph Lateral Scler Frontotemporal Degener
; 14(5-6): 473-5, 2013 Sep.
Article
in English
| MEDLINE
| ID: mdl-23286748
ABSTRACT
Abstract We present a case of concurrent cystic fibrosis (CF) and amyotrophic lateral sclerosis (ALS). To our knowledge this is the first reported coincidence of these two diseases. Although TDP-43 dysfunction has been linked to both pathologies, it does not appear to be pivotal in this individual who does not display TDP-43 mediated aberrant splicing of the CFTR gene or carry a mutation in the TARDBP gene. Alternative reasons for the coincidence are discussed including medication, infection, hypoxia and loss of function of the CFTR channel. Our findings await validation by others, but as the prognosis of CF improves then clinicians in both fields should be aware of the possibilities highlighted by this case.