charcot marrie

The patient is a 44-year-old man. His parents are consanguineous. He experienced muscle weakness in his toe and distal tingling sensation in his feet at 42 years of age, which gradually progressed. Additionally, a marked cyanotic discoloration of the feet appeared and worsened progressively. Neurological examination revealed loss of tendon reflexes and distal muscle weakness in the lower extremities. Findings from nerve conduction studies indicated axonal polyneuropathy. Upon detection of the MME gene mutation, the patient was diagnosed with autosomal-recessive Charcot-Marie-Tooth disease 2T (ARCMT2T)...

In this paper, we present a translation of an unpublished autobiographical document by Augusta Déjerine-Klumpke, reporting her early years before she came to Paris to study medicine, when she was able to become one of the first women in France to hold a hospital position, as an extern and an intern. This American-born girl later married Jules Déjerine, who was to become the second successor to Charcot at La Salpétrière 23 years later. The present document gives a vivid account on the preceding years, and emphasizes the extraordinary dynamism and enthusiasm of a young woman, whose efforts and contributions influenced neurology at the turn of the 20th century, and dramatically changed the role of women in medical careers...

Jean Martin Charcot travelled to Spain in December 1887 in the company of Alfred Hardy for the medical examination of Martin Larios y Larios, a member of the Spanish parliament. Martín Larios had shown behavioral disturbances and had married secretly for the second time against the advice of his family, one of the richest and more dominating families in Spain during the 19th century. In their report Charcot and Hardy gave a diagnosis of mental insanity probably due to general paresis, as they had noted memory deficits and delusion of grandeur...

This article presents a pedigree of 80 members of which there are 13 patients (13 males) with peroneal muscular atrophy. The analysis of this pedigree shows that an affected male married to a normal female will have normal son(s) and carrier-daughter(s). The normal son(s) will have normal offspring, but half the sons of the carrier-daughter(s) will be affected. The pathogenic genes of affected males are transmitted to their daughters, but not to their sons. So this inheritance is of X-linked recessive type...

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system characterized by progressive weakness and atrophy of distal limb muscles. In the majority of HMSN I families, linkage studies localized the gene (CMT 1a) to the pericentromeric region of chromosome 17. We have detected with probe pVAW409R3 (D17S122) localized in 17p11.2 a duplication, co-segregating with the disease in 12 HMSN I families. In these families the duplication was present in all 128 patients but absent in the 84 unaffected and 44 married-in individuals (lod score of 58...