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A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.
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1962
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Neurological DisorderCorticobasal DegenerationGeneticsWhite MatterPeculiar HairSocial SciencesNeurobiology Of DiseaseMendelian DisorderNeurologyAbnormal DevelopmentBrain PathologyNeuropathologyDisorders Of Sex DevelopmentDiffuse AtrophyNeurogeneticsMedicineSex-linked Recessive DisorderG. FamilyDevelopmental AnomalyNeurodegenerative DiseasesGenetic DisorderNeuroanatomyCerebellar DegenerationDegenerative DiseaseNeuroscienceGlutamic Acid
In two generations of the G. family, five males exhibited a cerebral degenerative disorder marked by peculiar stubby white hair (pili torti, monilethrix, trichorrexis nodosa), early severe growth retardation, and rapid neurological decline to decerebration. The authors suggest this represents a novel clinical syndrome caused by an inherited metabolic defect.
In two generations of the G. family, five males suffered from a cerebral degenerative disorder characterized by (1) peculiar stubby white hair with the microscopic picture of pili torti, monilethrix, and trichorrexis nodosa; (2) early and severe retardation; and (3) severe neurological impairment beginning within the first month or two of life and rapidly progressing to decerebration. A sex-linked recessive trait has been implicated. Postmortem examination in two cases revealed a widespread degeneration of the cerebral grey matter, secondary degeneration of the cerebral white matter, and a diffuse atrophy of the cerebellar cortex. Plasma amino acid chromatography showed consistently elevated glutamic acid. The significance of this finding is unknown. Other biochemical investigations were found to be within normal limits. The suggestion is offered that the condition described represents a new clinical syndrome due to an inherited error in metabolism.