Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Madhu NagappaArun B Taly

Abstract

Non-Wilsonian hepatolenticular degeneration (NWHD) is a heterogeneous neurological disorder occurring secondary to chronic acquired liver disease. Genetically determined familial NWHD is rare, poorly understood, and often mistaken for Wilson's disease (WD). We analysed clinical and MRI profiles of NWHD patients who did not have obvious cause for acquired liver disease, such as alcohol intake or hepatitis. Six patients from four families (four males, two females, mean age: 17.0±standard deviation 7.9years), presenting with chronic extrapyramidal disorder resembling WD and imaging (abdominal ultrasound/MRI) evidence of cirrhosis were studied. They lacked Kayser-Fleischer rings or biochemical and/or genetic evidence of WD. Clinical features included dystonia (n=6), parkinsonism (n=3), tremor (n=1), cerebellar ataxia (n=3), orofacial dyskinesia (n=1), behavioural abnormalities (n=3), and cognitive decline (n=1). Brain MRI revealed T1-weighted hyperintensity in the pallidum (n=6), crus cerebri (n=4), putamen (n=1), caudate (n=1), thalamus (n=1), and red nucleus (n=1) with T2-weighted shortening in some of these regions. Additional findings included giant cisterna magna (n=1), face of giant panda sign (n=1) and thin corpus callosum (...Continue Reading

References

Nov 1, 1995·Movement Disorders : Official Journal of the Movement Disorder Society·M S Jog, A E Lang
Jun 6, 2006·Neuroradiology·S SinhaH S Swamy
Oct 21, 2006·Parkinsonism & Related Disorders·C-C HuangD B Calne
Jul 13, 2007·Neuroradiology·A UchinoS Kudo
Apr 9, 2008·Journal of Inherited Metabolic Disease·Karin TuschlPeter T Clayton
Feb 19, 2009·Journal of Neurology·Joseph Ferrara, Joseph Jankovic
Mar 18, 2010·Journal of the Neurological Sciences·Nico MelzerGuido Stoll
Oct 4, 2011·Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)·Aaron B BowmanMichael Aschner
Aug 20, 2014·Frontiers in Genetics·Pan ChenMichael Aschner
Mar 18, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Marialuisa QuadriVincenzo Bonifati

❮ Previous
Next ❯

Citations

Jun 11, 2020·Current Opinion in Neurology·Annu Aggarwal, Mohit Bhatt
Sep 9, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Xiaoyu Dong, Jianfei Nao
Jul 14, 2020·Current Opinion in Neurology·Annu Aggarwal, Mohit Bhatt
Feb 9, 2021·Hepatology Communications·Diana ApetauerovaFredric D Gordon

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Related Papers

QJM : Monthly Journal of the Association of Physicians
A GuptaM K Goyal
The Journal of the Association of Physicians of India
Akhila Kumar PandaSuman Kushwaha
Journal of Neurology, Neurosurgery, and Psychiatry
J M TrocelloF Woimant
© 2022 Meta ULC. All rights reserved