Familial Striatal Degeneration

Abstract

(Fig 2). This was found to be due to almost complete disappearance of the small neurons. The large neurons were preserved and appeared unusually promi¬ nent due to loss of intervening substance (Fig 3)

Striatal degeneration in childhood.

“…In view of this history and the clinical course Case 1 is, in our opinion, a case of juvenile Huntington's disease, in spite of the fact that the neuropathological lesions in her case were more restricted than those in previous reports (Byers et al, 1973). The pathological features of our cases are more similar to those described by Roessmann and Schwartz (1973). The only significant difference is in the cerebellum.…”

“…In their own 4 cases which were extensively studied similar damage was detected in the thalamus, pontine tegmentum, vestibular nuclei, and the cerebellum. Roessmann and Schwartz (1973) described 2 brothers with a subacute progressive neurological syndrome that was characterised by onset in infancy, psychomotor retardation, and rigidity. Pathological examination showed marked neuronal loss in the caudate nucleus and putamen, accompanied by moderate astrocytic proliferation.…”

Familial infantile bilateral striatal necrosis

“…[5][6][7][8][9][10][11] The patients in our series, which is the largest reported so far, had similar initial clinical manifestations-i.e., developmental arrest and in some cases regression of motor and cognitive skills similar to the earlier cases-but there were differences in the extrapyramidal and ocular manifestations. [5][6][7][8][9][10][11] The patients in our series, which is the largest reported so far, had similar initial clinical manifestations-i.e., developmental arrest and in some cases regression of motor and cognitive skills similar to the earlier cases-but there were differences in the extrapyramidal and ocular manifestations.…”

“…The differential diagnosis of basal ganglia degeneration in childhood includes acute disseminated encephalomyelitis, carbon monoxide intoxication, methanol intoxication, anoxicischemic encephalopathy, small vessel arteritis, symmetric arteriovenous destructive malformations, juvenile Huntington chorea, Hallervorden-Spatz syndrome, status marmoratus, Wilson disease, guanidinoacetate methyltransferase deficiency, Leigh encephalopathy, and IBSN. [9][10][11] The known genetics include mitochondrial inheritance (MELAS, 3 Leigh disease 12 ) and mutations of the adenosine triphosphatase 6 gene (complex V). 3 Basal ganglia degeneration may also be manifested by basal ganglia calcification due to prenatally or postnally acquired hypoxic-ischemic, infectious, and toxic insults, 3 dystrophic calcification, or calcium metabolism abnormalities, such as hypoparathyroidism, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism.…”

Infantile bilateral striatal necrosis maps to chromosome 19q

“…2 Familial IBSN has rarely been reported. [3][4][5][6][7][8] In the families with mitochondrial inheritance, mutations of the adenosine triphosphatase 6 gene (complex V) were described. 9,10 Subjects and methods.…”