Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Total: 2

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PMID (PMCID)
27915967	FEMALE	Middle Aged
	Liver Transplant Can Resolve Severe Neuropsychiatric Manifestations of Wilson Disease: A Case Report.
	Walker G, Hussaini T, Stowe R, Cresswell S, Yoshida EM. Exp Clin Transplant. 2018;16(5):620-624.
	The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait.
10406672	MALE	Adult
	Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
	Battisti C, Loudianos G, Rufa A, Dotti MT, Sangiorgi S, Dessi V, Lovicu M, Pirastu M, Federico A. Am J Med Genet. 1999;85(2):175-8.
	We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia.