Radiologic and Neuropathologic Findings in Patients in a Family with Dentatorubral-Pallidoluysian Atrophy

Abstract

SUMMARY:We describe the cases of 2 patients, a father and his son, with DRPLA who underwent MR examinations prior to death and in whom postmortem examinations of the brain were obtained. MR imaging findings had the following features: 1) atrophy of the cerebellum and brain stem were the common findings, 2) high-signal-intensity lesions in the cerebral white matter and brain stem were observed on T2-weighted images in the patient with adult-onset DRPLA, 3) signal-intensity changes in the cerebral white matter were restricted to the periventricular white matter in the patient with juvenile-onset DRPLA, but these changes appear in the advanced stage, and 4) progressive cerebral atrophy was more marked in the patient with juvenile-onset DRPLA. In the patients with DRPLA, the abnormal high signal intensity of the cerebral white matter or brain stem on MR images reflect the loss of myelinated fibers. Cerebral atrophy mainly reflects atrophy of the neuropile.ABBREVIATIONS: ABC ϭ avidin-biotin-peroxidase complex; DRPLA ϭ dentatorubral-pallidoluysian atrophy; KB ϭ Klü ver-Barrera

Basal Ganglia Volumes: MR-Derived Reference Ranges and Lateralization Indices for Children and Young Adults

“…Huntington disease (HD) 26 and dentatorubral-pallidoluysian atrophy (DRPLA) 27 are both late clinical onset, polyglutamine repeat disorders inherited in an autosomal dominant way and selectively causing atrophy of the CN in HD and the GP in DRPLA. In both disorders an anticipation phenomenon occurs meaning that the next generation of gene carriers will have a longer polyglutamine repeat region and will present clinical symptoms earlier in life.…”

Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature

“…Features of juvenile-onset DRPLA have included early social withdrawal, regression in behaviour, violent behaviour, increasing paucity of speech, mild intellectual disability, psychiatric diagnoses including autism and attention-deficit-hyperactivity disorder, and development of seizures [ 106 ]. Sunami et al [ 107 ] described a father and son with typical presentations of adult-onset DRPLA and juvenile onset DRPLA, respectively. In this pedigree, the patient with adult-onset DRPLA demonstrated ataxia, chorea and dementia in middle-age, whereas his son with juvenile onset DRPLA mainly manifested ataxia, epilepsy, myoclonus and severe, young-onset dementia.…”

Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

“…Conditions such as DRPLA, neuroferritinopathy or chorea‐acanthocytosis can also present as HD‐like disorders. The main characteristics of these conditions are summarized in Table 1 11, 13, 14, 15, 16, 17, 18, 19, 20…”

“…The main characteristics of these conditions are summarized in Table 1. 11,[13][14][15][16][17][18][19][20] We have presented here the occurrence of chorea and cognitive impairment in patients with mutations in different genes of the NER pathway (ERCC5 and ERCC3). In a recent report by Carr e et al, 15 two XP-F patients (with mutations in the ERCC4 gene) with chorea and cerebellar ataxia were also described.…”