Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

Iwakawa, Yoshihide; Shimohira, Masayuki; Kohyama, Jun; Kodama, Hiroko

doi:10.1007/bf01956756

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…Many patients with such a disorder also exhibit dysarthria, cognitive degeneration, sensory deficits, and abnormal brain and spinal MRI results. [11][12][13][14][15][16][17][19][20][21][22] Our patient exhibited acute severe hemilingual dyskinesia and prominent tics with ballismus of the upper limbs and normal brain and spinal MRI results. His serum copper and ceruloplasmin levels were low, and his urinary copper level was elevated after penicillamine challenge.…”

Section: Discussionmentioning

confidence: 64%

Lingual Dyskinesia and Tics: A Novel Presentation of Copper-Metabolism Disorder

2011

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Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

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Section: Discussionmentioning

confidence: 64%

Lingual Dyskinesia and Tics: A Novel Presentation of Copper-Metabolism Disorder

2011

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“…We retrospectively investigated a total of 57 paediatric patients 0–16 y old (32 different case reports), 55 of which were published between 1977 and 2004 5–35 and collected from NCBI's PubMed database (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi), and two of our own unpublished cases. Our cases were followed up at the Department of Paediatrics, University of Verona.…”

Section: Methodsmentioning

confidence: 99%

Urological complications and copper replacement therapy in childhood Menkes syndrome

Zaffanello¹,

Maffeis²,

Fanos³

et al. 2006

Acta Paediatrica

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Background: Urological complications are frequent in Menkes syndrome, a very rare X‐linked recessive disorder of copper (Cu) metabolism. Aim: To evaluate the role of Cu therapy in preventing the progression of urological complications. Subjects and methods: We retrospectively enrolled 57 patients with Menkes syndrome (55 published case reports and two of our own unpublished cases) and investigated the reported urological complications, distinguishing the patients with or without Cu replacement therapy and evaluating the efficacy of this therapy in the prevention of urological complications. Results: The most frequent urological complication was bladder diverticulum (38.6% of the total patients); obstruction bladder outflow and rupture of the kidney were less frequent (both 1.8% of the total). The number of congenital urological complications increased progressively by age category; in fact, 77.8% of patients did not report urological complications at the age of 0.4±0.2 y, and 28.6% of them displayed ≥ two congenital urological complications at the age of 9.3±2.6 y. The percentage of urological complications found in younger patients not on Cu therapy did not differ from that of older patients treated with Cu therapy. A comparison between patients of the same age interval, who were or were not treated with Cu, showed that treated children had fewer urological complications than untreated children. Conclusion: Our investigation suggests that Cu therapy in patients with Menkes syndrome does not prevent the progression of urological complications; however, it might delay their worsening.

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Recent developments in Menkes disease

Kodama

1993

J of Inher Metab Disea

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Recent studies on Menkes disease are reviewed, focusing especially on copper transport in the cells. A large amount of copper accumulated in the organelle-free cytoplasm, whereas mitochondria were in a state of copper deficiency, indicating that Menkes mutation probably affects copper transport from the cytosol to the organelles in the cells. Microscopic observation of the brain of the macular mouse showed that copper accumulates in the blood vessels. Observation of the brain tissue of the macular mouse after intraventricular administration of copper revealed that copper accumulates in the glia as well as the blood vessels. Copper accumulation was also observed in cultured astrocytes, a type of glial cell, indicating that the affected astrocytes accumulate blood-borne copper and release little of it in the patients with Menkes disease. Thus the effective treatment of Menkes disease could possibly be to release trapped copper from the blood vessels and glia into the neurons.

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Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

Cited by 4 publications

References 18 publications

Lingual Dyskinesia and Tics: A Novel Presentation of Copper-Metabolism Disorder

Lingual Dyskinesia and Tics: A Novel Presentation of Copper-Metabolism Disorder

Urological complications and copper replacement therapy in childhood Menkes syndrome

Recent developments in Menkes disease

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