Adult‐type metachromatic leukodystrophy with compound heterozygous <i>ARSA</i> mutations: A case report and phenotypic comparison with a previously reported case

Hayashi, Takuo; Nakamura, Masayuki; Ichiba, Mio; Matsuda, M; Kato, Maiko; Shiokawa, Nari; Shimo, Hirochika; Tomiyasu, Akiyuki; Mori, Satsuki; Tomiyasu, Yoko; Ishizuka, Takanori; Inamori, Yukie; Okamoto, Yuji; Umehara, Fujio; Arimura, Kimiyoshi; Nakabeppu, Yoshiaki; Sano, Akira

doi:10.1111/j.1440-1819.2010.02169.x

Cited by 10 publications

(5 citation statements)

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“…In June, the HDS‐R score was 19 at PSL 20 mg/day. In August, the HSD‐R score was 22 and the Alzheimer Disease Assessment Scale‐Cognitive Subscale Japanese version (ADAS‐J Cog) (cutoff point for dementia = 9/10 15 ) was 21.6 at PSL 10 mg/day. MRI showed no obvious brain atrophy or abnormal signals (Figure 1a ).…”

Section: Case Presentationmentioning

confidence: 99%

Two cases of steroid dementia showing partial recovery during 2‐year follow‐up

et al. 2022

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Background: Steroid dementia has been reported since the 1970s. In the current superaged society, it increasingly receives attention because of the growing number of elderly people that are medicated with steroids for systemic rheumatic disease. Case Presentation: We report two cases of steroid dementia that were diagnosed as a result of careful observation of clinical symptoms and biological examination, including nuclear medicine tests. Cognitive and daily living functions were partially recovered in both cases after decrease or discontinuance of steroid medication in 2-year follow-up, but their daily living function could not be totally restored to premorbid level. Conclusion: Cognitive dysfunction caused by steroids is suggested by these cases, although definitive diagnosis in these cases is not possible. It was partially reversible over the course of a few years, but some functional loss remains. Cognitive function should be assessed appropriately before, during, and after steroid treatment. Detailed differential diagnosis of neurodegenerative disorders and longitudinal follow-up is required when cognitive dysfunction is observed after initiation of steroid therapy.

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Section: Case Presentationmentioning

confidence: 99%

Two cases of steroid dementia showing partial recovery during 2‐year follow‐up

et al. 2022

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“…157 MLD is both genetically and phenotypically heterogeneous, with a variable age of onset. 158 Some MLD mutations are associated with predominant motor presentations, others with cognitive and psychiatric features. Adult homozygotes for p.P426L tended to present with gait disturbances followed by choreoathetotic movements, dysphagia, dysarthria, tremor, and nystagmus, whereas carriers of the less common p.I179S mutation present primarily with psychosis.…”

Section: Metachromatic Leukodystrophymentioning

confidence: 99%

The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction

Hayhow

Hassan

Looi

et al. 2013

Tremor and Other Hyperkinetic Movements

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Background: Movement disorders, particularly those associated with basal ganglia disease, have a high rate of comorbid neuropsychiatric illness. Methods:We consider the pathophysiological basis of the comorbidity between movement disorders and neuropsychiatric illness by 1) reviewing the epidemiology of neuropsychiatric illness in a range of hyperkinetic movement disorders, and 2) correlating findings to evidence from studies that have utilized modern neuroimaging techniques to investigate these disorders. In addition to diseases classically associated with basal ganglia pathology, such as Huntington disease, Wilson disease, the neuroacanthocytoses, and diseases of brain iron accumulation, we include diseases associated with pathology of subcortical white matter tracts, brain stem nuclei, and the cerebellum, such as metachromatic leukodystrophy, dentatorubropallidoluysian atrophy, and the spinocerebellar ataxias.Conclusions: Neuropsychiatric symptoms are integral to a thorough phenomenological account of hyperkinetic movement disorders. Drawing on modern theories of cortico-subcortical circuits, we argue that these disorders can be conceptualized as disorders of complex subcortical networks with distinct functional architectures. Damage to any component of these complex information-processing networks can have variable and often profound consequences for the function of more remote neural structures, creating a diverse but nonetheless rational pattern of clinical symptomatology.

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“…In terms of genotype, late-onset forms are thought to have different molecular bases [ 45 ]. In this case, the psychiatric symptoms are often present from the outset and may mimic schizophrenia with hallucinations and behavioural disorders [ 46 ].…”

Section: Introductionmentioning

confidence: 99%

Psychiatric manifestations of treatable hereditary metabolic disorders in adults

Demily

Sedel

2014

Ann Gen Psychiatry

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Detecting psychiatric disorders of secondary origin is a crucial concern for the psychiatrist. But how can this reliably be done among a large number of conditions, most of which have a very low prevalence? Metabolic screening undertaken in a population of subjects with psychosis demonstrated the presence of treatable metabolic disorders in a significant number of cases. The nature of the symptoms that should alert the clinician is also a fundamental issue and is not limited to psychosis. Hereditary metabolic disorders (HMD) are a rare but important cause of psychiatric disorders in adolescents and adults, the signs of which may remain isolated for years before other more specific organic signs appear. HMDs that present purely with psychiatric symptoms are very difficult to diagnose due to low awareness of these rare diseases among psychiatrists. However, it is important to identify HMDs in order to refer patients to specialist centres for appropriate management, disease-specific treatment and possible prevention of irreversible physical and neurological complications. Genetic counselling can also be provided. This review focuses on three HMD categories: acute, treatable HMDs (urea cycle abnormalities, remethylation disorders, acute intermittent porphyria); chronic, treatable HMDs (Wilson’s disease, Niemann-Pick disease type C, homocystinuria due to cystathionine beta-synthase deficiency, cerebrotendinous xanthomatosis); and chronic HMDs that are difficult to treat (lysosomal storage diseases, X-linked adrenoleukodystrophy, creatine deficiency syndrome). We also propose an algorithm for the diagnosis of HMDs in patients with psychiatric symptoms.

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Adult‐type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case

Cited by 10 publications

References 10 publications

Two cases of steroid dementia showing partial recovery during 2‐year follow‐up

Two cases of steroid dementia showing partial recovery during 2‐year follow‐up

The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction

Psychiatric manifestations of treatable hereditary metabolic disorders in adults

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