Canadian Medical Guide > Diseases > Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System Terms and Definitions

Heredodegenerative Disorders, Nervous System

Medical Definition:

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.

Heredodegenerative Disorders, Nervous System Categories.

	Amyloid Neuropathies, Familial - Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
	Neuronal Ceroid-Lipofuscinosis - An inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. Affected individuals develop retinal degeneration, seizures, myoclonus, ataxia, rigidity, and progressive dementia. Clinically there are four subtypes, divided by age of onset of symptoms: infantile (Santavuori-Haltia type), late infantile (Jansky-Bielschowsky type), juvenile (Spielmeyer-Vogt type), and adult (Kuf's disease). The late infantile and juvenile forms may both also be referred to as Batten Disease and Batten-Mayou Disease. (Adams et al., Principles of Neurology, 6th ed, p957)
	Rett Syndrome - An inherited disorder that is associated with X-linked transmission and may be lethal in utero to hemizygous males. Clinically, birth and development in affected females is normal until the age of 6-25 months, when progressive loss of voluntary control of hand movements and communication skills, ataxia, stereotypic hand movements, seizures, autistic behavior, intermittent hyperventilation, and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

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