Adrenoleukodystrophy Presenting as Spinocerebellar Degeneration

Abstract

The clinical features of 3 patients from a kindred with adrenoleukodystrophy and the analysis of their plasma sphingomyelin are described. Onset of symptoms was between the ages of 33 and 54 years. Ataxic gait and spasticity were the only symptoms noted during the early stage of the disorder. Dementia and optic atrophy were present in two of the cases. Baseline plasma Cortisol was normal, but adrenocorticotropic hormone was elevated. Analysis of plasma sphingomyelin demonstrated an increase in very-long-chain (C24-C26) fatty acid. This study demonstrates that adrenoleukodystrophy may present with spinocerebellar symptoms.

Myelin Degeneration in Multiple System Atrophy Detected by Unique Antibodies

“…2,4,7,22 Immunohistochemical studies have shown that MBP is not a component of GCIs. [23][24][25] The present study also showed that GCIs do not contain the anti-EP/ QD-9 epitope, corresponding to hMBP 82 to 86. The appearance of GCIs is thought to precede the other changes of neuronal loss, gliosis, and myelin pallor.…”

Isolated Cerebellar Variant of Adrenoleukodystrophy with ade novoAdenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

“…To the best of our knowledge, there are reports of 17 cases of adrenoleukodystrophy presenting as spinocerebellar degeneration or olivopontocerebellar atrophy worldwide. Clinical presentations of these cases were similar to spinocerebellar ataxia or olivopontocerebellar atrophy similar to our patient 3,4,5,6,7,8,9,11,12,13,14…”

“…Childhood cerebral ALD and adrenomyeloneuropathy (AMN), the two most common phenotypes, account for 70-80% of patients with X-ALD 1,2. Presentation as spinocerebellar degeneration or olivopontocerebellar degeneration have been rarely reported in literature,3,4,5,6,7,8,9 and these reports described a mutation in exon 2 or exon 8 of the ABCD1 gene in these unusual phenotypic variants of X-ALD 4,5,9. Herein, we report a Korean male with X-ALD with an isolated lesion in the cerebellar white matter and dentate nuclei, derived from a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs * 10) of the ABCD1 gene.…”

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation

“…Childhood cerebral ALD and adrenomyeloneuropathy (AMN), the two most common phenotypes, account for 70-80% of patients with X-ALD [3]. Clinical presentation as spinocerebellar ataxia has been rarely reported [4][5][6][7][8][9][10]. Only one of the very few reports has described a mutation of exon 2 of the ABCD1 gene in this unusual phenotypic variant of X-ALD [4].…”