Kufs disease (adult chronic gm2 gangliosidosis; gangliosidosis gm2 adult type; hallervorden-kufs syndrome) 6

General: Autosomal recessive; hexosaminase A decrease; onset in the third and fourth decades of life; slow death within 19 or 20 years of onset; very rare type of adult neuronal ceroid lipofuscinosis; autosomal recessive and dominant inheritance have been reported.

Ocular: Retinal storage; ocular lesions usually are absent; rare macular discoloration; no pigmentary degeneration of the retina.

Clinical: Dementia and behavioral changes; progressive gait and postural deterioration; mild ataxia; dysarthria; ascending muscular atrophy; pes cavus; cerebral degeneration; apathy; progressive myoclonus epilepsy; aphasia; facial dyskinesias; lipid infiltration of the brain cells is the principal pathologic feature (see Ceroid Lipofuscinosis).

Bateman JB, Philippart M. Ocular features of Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102:262-271.

Brod RD, et al. Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes. Arch Ophthalmol 1987; 105:1388-l393.

Dom R, et al. Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers, retinal and visceral storage in one; diagnostic muscle biopsy in the other. Acta Neuropathol 1979; 45:67-72.

Kufs H. Uber eine Spatform der Anaurotischen Idiotie und Ihre Heredofamilia ren Grundlagen. Z Neurol Psychiatr 1925; 95:169-l88.

Martin JJ. Adult type of neuronal ceroid lipofuscinosis. Dev Neurosci 1991; 13:331-338.

Vital A, et al. Adult dementia due to intraneuronal accumulation of ceroid lipofuscinosis (Kufs' disease): ultrastructural study of two cases. J Geriatr Psychiatry Neurol 1991; 4:110-l15.