Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI

Suda, Satoshi; Komaba, Yuichi; Kumagai, Tadayuki; Yamazaki, Mineo; Katsumata, T; Kamiya, T.; Katayama, Yutaka

doi:10.1212/01.wnl.0000191329.34585.15

Cited by 9 publications

(6 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, a large, prospective Unmasking ALD in cerebellar ataxia cohort of AVALD is needed to validate such association. In concert with our findings, a 3-year annual MRI follow-up study demonstrated demyelination changes in the dentatorubothalamic tracts and corticospinal tracts in a patient with AVALD [33]. Another study with an autopsied case of AVALD indicated that these cerebellar white matter lesions reflect underlying pathology of myelin rarefaction and perivascular infiltrations of macrophages [12], a consequence of toxic accumulation of VLCFA in the oligodendrocytes.…”

Section: Discussionsupporting

confidence: 85%

“…Among the 37 cases with AVALD in the literature [12,17,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38], brain MRI information was available in 18 individuals. Clinical data, brain MRI features regarding the WMH in the corticospinal tracts and cerebellar hemispheres, plasma VLCFA levels and mutations in ABCD1 were also obtained from the literature review.…”

Section: Clinical Evaluation Of Patients With Avaldmentioning

confidence: 99%

See 1 more Smart Citation

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Chen

Lee

Liao

et al. 2017

Journal of the Neurological Sciences

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 85%

Section: Clinical Evaluation Of Patients With Avaldmentioning

confidence: 99%

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Chen

Lee

Liao

et al. 2017

Journal of the Neurological Sciences

View full text Add to dashboard Cite

“…However, a large, prospective cohort of AVALD is needed to validate such association. In concert with our findings, a 3-year annual MRI follow-up study demonstrated demyelination changes in the dentatorubothalamic tracts and corticospinal tracts in a patient with AVALD [33]. Another study with an autopsied case of AVALD indicated that these cerebellar white matter lesions reflect underlying pathology of myelin rarefaction and perivascular infiltrations of macrophages [12], a consequence of toxic accumulation of VLCFA in the oligodendrocytes.…”

Section: Discussionsupporting

confidence: 79%

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Chen

Lee

Tsai³

et al. 2017

PLoS ONE

View full text Add to dashboard Cite

Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102). Brain MRIs were scrutinized for white matter hyperintensity (WMH) in the parieto-occipital lobes, frontal lobes, corticospinal tracts, pons, middle cerebellar peduncles and cerebellar hemispheres. Two ABCD1 mutations (p.S108L and p.P623fs) previously linked to cerebral ALD and adrenomyeloneuropathy but not AVALD were identified. ALD accounts for 0.85% (1/118) of the patients with molecularly unassigned hereditary ataxia and 0.34% (1/296) of the patients with sporadic ataxia with autonomic dysfunctions. WMH in the corticospinal tracts and WMH in the cerebellar hemispheres were strongly associated with AVALD rather than other ataxias. To conclude, ALD accounts for approximately 0.39% (2/516) of adult-onset cerebellar ataxias. This study expands the mutational spectrum of AVALD and underscores the importance of considering ALD as a potential etiology of cerebellar ataxia.

show abstract

“…The most common adult-onset ALD is AMN. However, rare cases presenting as progressive cerebellar dysfunction have been reported 2–10…”

Section: Discussionmentioning

confidence: 99%

A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction

Jung

Chung

Yun

et al. 2009

JMD

View full text Add to dashboard Cite

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

show abstract

Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI

Cited by 9 publications

References 4 publications

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction

Contact Info

Product

Resources

About