Pontomesencephalic Atrophy and Postural Instability in Wilson Disease

Kalita, Jayantee; Naik, Suprava; Bhoi, Sanjeev Kumar; Misra, Usha Kant; Ranjan, Abhay; Kumar, Sunil

doi:10.3174/ajnr.a5207

Cited by 8 publications

(5 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Smolinski et al found that patients with neurological manifestations had significantly higher annualized atrophy rates than other patients (Smolinski et al, 2022) and that the volume of all major brain structures correlated with functional and neurological impairment in patients with WD (Smolinski et al, 2019). In line with previous studies which revealed an association between brain atrophy and cognitive functions (Nagai et al, 2008;Liu et al, 2016), Kalita et al found that midbrain atrophy was associated with nervous system severity through 3D BRAVO sequence measurements of the midbrain and the pons (Kalita et al, 2017). Song et al quantified brain morphological abnormalities by whole brain volume and cortical thickness using 3D T1-weighted images (Song et al, 2021).…”

Section: Discussionmentioning

confidence: 81%

A study of linear measurement and clinical correlation of brain atrophy in Wilson's disease

Wang

Xuan

Zhao

et al. 2023

Front. Hum. Neurosci.

View full text Add to dashboard Cite

BackgroundThe aim of this study was to explore the clinical relevance of linear measures of Wilson's disease (WD).MethodsRelative values of brain atrophy in 30 patients with WD and 30 healthy volunteers were measured and compared using a manual measurement method. Linear measurement indicators of brain atrophy in patients with and without mental disorders were also compared. In addition, correlations of patients' age, disease duration, and Unified Wilson's Disease Rating Scale (UWDRS) scores with brain atrophy indicators were determined.ResultsThe results showed that the e-value, Huckman number, Evans index, and lateral ventricular body index were higher in the WD group compared with the control group. The age of patients with WD was negatively correlated with the k-value and significantly positively correlated with the brainstem index. WD duration was prominently positively correlated with the d-value and negatively correlated with the j-value. In addition, neurological function scores were significantly positively correlated with the c-value, e-value, caudate nucleus index, Huckman number, Evans index, and lateral ventricular body index. By contrast, patients with psychiatric symptoms had a higher a-value and fourth ventricular index than those without psychiatric symptoms.ConclusionTherefore, it can be concluded that patients with WD and those with psychiatric symptoms have more severe brain atrophy compared to normal subjects. The patient's age, disease duration, and neurological function scores were positively correlated with the severity of brain atrophy.

show abstract

Section: Discussionmentioning

confidence: 81%

A study of linear measurement and clinical correlation of brain atrophy in Wilson's disease

Wang

Xuan

Zhao

et al. 2023

Front. Hum. Neurosci.

View full text Add to dashboard Cite

show abstract

“…[ 33 ] Interestingly, brain MRI in severe neurological WD and postural instability may show midbrain atrophy. [ 62 ] The extent and load of brain MRI lesions correlates with clinical severity,[ 33 58 ] and diffusion restriction inversely correlates with duration of disease. [ 42 ] Brain MRI lesions may resolve with clinical improvement in WD.…”

Section: Iagnosismentioning

confidence: 99%

Wilson’s Disease Update

Thankappan

Bhattacharya

2022

Annals of Indian Academy of Neurology

View full text Add to dashboard Cite

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with liver and brain being primarily affected. Being a treatable disorder, early diagnosis and proper management of WD may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest that WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases with a high rate of consanguinity. Up to two-third of Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering to pre-morbid functionality with adequate therapy.

show abstract

Section: Linical F Eaturesmentioning

confidence: 99%

Wilson's Disease Update

Kumar¹,

Prashant²,

Goyal³

2021

Annals of Indian Academy of Neurology

View full text Add to dashboard Cite

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with the liver and brain being primarily affected. WD being a treatable disorder, early diagnosis and proper management may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in the Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases, with a high rate of consanguinity. Up to two-third of the Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering back to pre-morbid functionality with adequate therapy.

show abstract

Pontomesencephalic Atrophy and Postural Instability in Wilson Disease

Abstract: An increase in the MR Parkinsonism index in Wilson disease is mainly due to midbrain atrophy and it correlates with neurologic severity and abnormal postural reflex.

Cited by 8 publications

References 24 publications

A study of linear measurement and clinical correlation of brain atrophy in Wilson's disease

A study of linear measurement and clinical correlation of brain atrophy in Wilson's disease

Wilson’s Disease Update

Wilson's Disease Update

Contact Info

Product

Resources

About