Pathology

Grossly, the spinal cord and motor nerve roots are atro-phic. The histology is characterized by a loss of spinal and bulbar motor neurons (Figs. 5.21 and 5.22). Microg-lial nodules indicate the sites of neuronal losses. Acute cases show ballooned chromatolytic neurons and neu-ronophagia. Outside the motor system, chromatolytic neurons occur in the thalamus, and neuronal losses occur in the Clarke's columns of the spinal cord and sensory root ganglia. Skeletal muscles show denervation atrophy, mostly of type 2 fibers.

TABLE 5.8.

Amyotrophic Lateral Sclerosis

Molecular Pathology

Neuronal Inclusions

Bunina bodies

Eosinophilic

Hyalin bodies

Eosinophilic

Skeins of threads

Ubiquitin-positive

Spherical bodies

Ubiquitin-positive

TABLE 5.9.

Spinal Muscular Atrophies

Diseases

Age of Onset

Clinical Course

Werdnig-Hoffmann Disease

Early infantile

Acute

Autosomal recessive

SMA 2

Infantile

Chronic

Autosomal recessive

SMA 3

Kugelberg-Welander disease

Juvenile

Chronic

Autosomal recessive

SMA 4

Adult

Chronic

Autosomal recessive/ Autosomal dominant

Bulbospinal muscular atrophy (Kennedy's disease)

Adult

Chronic

X-linked recessive Triplet repeat disorder

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