Genetics of Peripheral Neuropathies

medizinischegenetik 3 - 2020
Wissenschaftliche Koordination: Ingo Kurth
Kurze Zusammenfassung
Peripheral neuropathy, the result of damage mostly to peripheral motor and sensory nerves, often causes muscle weakness, numbness and pain, usually beginning in the hands and feet. Autonomic nerves that control blood pressure, heart rate, digestion and bladder function may also be affected. Peripheral neuropathies, or polyneuropathies, are relatively common with an estimated prevalence in the general population of 2.5 %, and as high as 8 % at over 55 years of age. The causes are manifold and include immunological, metabolic, toxic or infectious as well as hereditary etiologies with many different genes being involved. In this issue the journal medizinischegenetik deals with the different aspects of heritable neuropathies.
Schwerpunkt Bild
copyright Ingo Kurth. Graphics: Justus Kurth, Aachen


Peripheral Neuropathies
Kurth Ingo Download PDF

Charcot-Marie-Tooth disease and hereditary motor neuropathies - Update 2020
Rudnik-Schöneborn Sabine, Auer-Grumbach Michaela, Senderek Jan Download PDF

Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues
Rudnik-Schöneborn Sabine,  Elbracht Miriam Download PDF

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project
Pipis Menelaos, Houlden Henry, Reilly Mary M. Download PDF

Peripheral sensory neuropathies - pain loss vs. pain gain
Cox James J., Woods C. Geoffrey, Kurth Ingo Download PDF

On the differential diagnosis of neuropathy in neurogenetic disorders
Cirak Sebahattin, Daimagüler Hülya-Sevcan, Moawia Abubakar, Koy Anne, Yis Uluc Download PDF

Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy
Eggermann Katja, Gläser Dieter, Abicht Angela, Wirth Brunhilde Download PDF