Pathology of peroneal muscular atrophy (Charcot-Marie-Tooth disease)

Author:

Hughes J. T.,Brownell B.

Publisher

BMJ

Subject

Psychiatry and Mental health,Clinical Neurology,Surgery

Reference37 articles.

1. The early reports of peroneal muscular atrophy are scattered throughout many nineteenth century medical journals and this present review may be incomplete. All the early reports found will be mentioned, but those describing cases with findings at necropsy will be described first and will be reviewed in more detail than those without pathological confirmation at necropsy. The first case reported with a necropsy examination,1855

2. Marinesco (1894) described the pathological findings in the case of a girl aged 25 years. There was a history of 10 years of progressive weakness and wasting first of the legs and later of the arms and hands. The paresis was accompanied by a painful dysaesthesia with sensory changes and absent reflexes. At necropsy Marinesco found degeneration of the long tracts of the posterior white columns of the anterior and posterior nerve roots, and of the peripheral nerve trunks. The skeletal muscles showed denervation atrophy with degeneration atrophy and degeneration of the intramuscular nerve fibres

3. Sainton (1899) reported a case with necropsy findings (observation 9) in his Paris MD thesis on 'L'amyotrophie type Charcot-Marie'. His patient, an artist, died at the age of 56 years after progressive weakness and wasting of the muscles since childhood. At necropsy the spinal cord showed definite degeneration of the posterior columns and of the posterior nerve roots. The grey matter is described as showing 'simple atrophy'. The only posterior root ganglion examined showed insignificant changes. The peripheral nerve trunks were degenerated and the skeletal muscles showed denervation atrophy

4. The case of Dejerine and Armand-Delille,1903

5. The most recent case reported with a description of the findings at necropsy is that of;Alajouanine et al; but unfortunately only the brain and the cervical region of the spinal cord were examined. The case concerned a woman who was 80 years of age at the time of her death. She had suffered from weakness and wasting of the lower limbs since the age of 7 years and was diagnosed at the age of 16 years by Professor Charcot at the Hospice de la Salpetriere. The main finding in the brain was a degeneration of the optic nerves and tracts. The spinal cord showed posterior column degeneration, anterior and posterior spinal root atrophy, and depletion of neurone cell bodies from the anterior grey horns. Although it was stated that the spinocerebellar tracts were degenerated, the neurone cell bodies of Clarke's column were said to be normal,1967

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