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2014
Charcot-Marie-Tooth (CMT) disease is the most common disorder in hereditary peripheral nerve neuropathy. Depending on the clinical manifestation, the disease is divided into demyelinating type (CMT1, with autosomal dominant inheritance, and CMT4, with autosomal recessive inheritance), axonal type (CMT2, including both autosomal dominant and autosomal ...
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Charcot-Marie-Tooth (CMT) disease is the most common disorder in hereditary peripheral nerve neuropathy. Depending on the clinical manifestation, the disease is divided into demyelinating type (CMT1, with autosomal dominant inheritance, and CMT4, with autosomal recessive inheritance), axonal type (CMT2, including both autosomal dominant and autosomal ...
openaire +2 more sources
2012
Parkinson's disease (PD) appears as a sporadic disorder in most patients. This chapter discusses the genetics of the Mendelian forms of PD identified to date, focusing on five genes: a-synuclein, parkin, DJ-1, PINK1, and LRRK2 that have been associated conclusively with this disease.
Eric LeGuern +2 more
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Parkinson's disease (PD) appears as a sporadic disorder in most patients. This chapter discusses the genetics of the Mendelian forms of PD identified to date, focusing on five genes: a-synuclein, parkin, DJ-1, PINK1, and LRRK2 that have been associated conclusively with this disease.
Eric LeGuern +2 more
openaire +2 more sources
Charcot-Marie-Tooth Disease and Pregnancy
2018Charcot-Marie-Tooth neuropathies (CMT) represent the most common hereditary neuropathies and can affect men and women from infancy to adulthood. There are no effective or FDA approved pharmacologic treatments aimed at disease modification for any form of CMT, so the primary focus of clinical care is on symptomatic treatment, maintaining functionality ...
David N. Herrmann, Peter D. Creigh
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Onconephrology: The intersections between the kidney and cancer
Ca-A Cancer Journal for Clinicians, 2021Mitchell H Rosner +2 more
exaly
, 2020 Charcot-Marie-Tooth Disease, Type 1B
2014Peroneal muscular atrophy, or Charcot-Marie-Tooth (CMT) disease, is characterized by a wide genetic heterogeneity, including forms with both autosomal dominant and recessive or X-linked patterns of inheritance (Tables 90.1 and 90.2). Electrophysiological studies suggested that the slowing of nerve conduction velocities distinguishes patients with a ...
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Multidisciplinary standards of care and recent progress in pancreatic ductal adenocarcinoma
Ca-A Cancer Journal for Clinicians, 2020Aaron J Grossberg +2 more
exaly