Increased tissue copper and manganese content in the lentiform nucleus in primary adult-onset dystonia

Becker, Georg; Berg, Daniela; Rausch, Wolf Dieter; Lange, H.; Riederer, Peter; Reiners, Karlheinz

doi:10.1002/1531-8249(199908)46:2<260::aid-ana18>3.0.co;2-6

Cited by 57 publications

(35 citation statements)

References 18 publications

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“…Similar sonographic findings have been obtained in a high proportion of patients with a focal or generalized primary adult‐onset dystonia 3, 4. Recent studies on brain tissue of patients with primary dystonia have demonstrated that the increased brightness (echogenicity) of the lentiform nuclei on TCS might be related by an elevated tissue copper content 5. It is well known that an increase in synaptic copper concentration may modulate receptor activity6–10 and consequently the neuronal output of the basal ganglia loop 11.…”

supporting

confidence: 65%

“…In patients with primary dystonia we were able to demonstrate an increased copper concentration in the lentiform nuclei. This may explain the elevated echogenicity as well as shift of T2 values and may play a role in the pathogenesis of dystonic movements disorders 5, 12. Copper may influence receptor function and basal ganglia neuronal activity that may result in a disinhibition of the motor cortex and dystonic movements and postures 6–10.…”

Section: Discussionmentioning

confidence: 99%

“…It is well known that an increase in synaptic copper concentration may modulate receptor activity6–10 and consequently the neuronal output of the basal ganglia loop 11. This may result in an abnormal activation of the premotor cortex leading to dystonic muscle spasms 5, 11, 12. The potential cause for the increased copper concentration in the lentiform nuclei has been investigated in a recent study on postmortem brain tissue of patients with primary dystonia.…”

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confidence: 99%

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Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

et al. 2002

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Some patients with cervical disc herniation suffer from persistent nuchal pain and muscle spasms after decompressive surgery despite the lack of clinical and radiological signs for actual spinal root compression. Sonographic examination of the brain in some of these patients showed increased echogenicity of the lentiform nuclei as described in patients with idiopathic dystonia. This has been linked to an altered Menkes protein level and copper metabolism. We suggest a relationship between persistent nuchal pain after adequate cervical disc surgery and dystonic movement disorders. Thirteen patients with persistent nonradicular nuchal pain after at least one cervical disc surgery and without evidence of continuing spinal root compression and 13 age-matched controls were included. All patients had a complete neurological examination, ultrasound, and MRI scan of the brain. In addition, Menkes protein mRNA levels of leucocytes were analyzed in patients and controls. All patients with persistent nuchal pain exhibited a constant tonic unilateral shoulder elevation associated with an ipsilateral hypertrophy of the trapezius muscle. Ultrasound examination showed an increased echogenicity of the lentiform nucleus in one patient unilaterally and in 10 patients bilaterally but in none of the controls. On MRI the T2-values of the lentiform nuclei were found to be higher in patients exhibiting a hyperechogenicity of the lentiform nuclei compared to controls (P = 0.01). In addition, Menkes protein mRNA levels were decreased in patients with cervical disc herniation (P = 0.03). Clinical, neuroimaging, and biochemical findings of this selected patient sample with chronic nuchal pain and muscle spasms after cervical disc surgery resemble alterations in patients with idiopathic cervical dystonia. This suggests a link between both disorders. A peripheral trauma to the nerve roots may precipitate dystonic movements in susceptible patients and chronic dystonic muscle contraction would account for the persistent nuchal pain.

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confidence: 65%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

et al. 2002

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“…36 Neuropathological examinations in patients with idiopathic dystonia revealed sig nifi cantly increased copper levels in the globus pallidum and putamen compared with control brain samples. 37 Further neuropathological and multimodal imaging studies are needed to elucidate the pathogenesis of the hyper echogenicities in patients with Huntington disease. Regarding brain atrophy, the sonographic evaluation of the ventricular system, including ventricular enlargement, has been described previously.…”

Section: Discussionmentioning

confidence: 99%

Depression in patients with Huntington disease correlates with alterations of the brain stem raphe depicted by transcranial sonography

Krogias

Strassburger

Eyding

et al. 2011

jpn

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Background: Transcranial sonography (TCS) has become a new diagnostic tool in the evaluation of extrapyramidal disorders. Studies of TCS report alterations of the mesencephalic raphe in patients with depression. The aim of this study was to evaluate TCS findings in patients with Huntington disease in correlation with their neurologic and psychiatric status. Methods: We recruited patients with genetically confirmed Huntington disease. The neurological and psychiatric status of participants was assessed by independent physicians. Echogenicities were investigated according to examination protocol for extrapyramidal disorders using a Siemens Sonoline Elegra system. The sonography examiner was blinded for clinical data. Results: We included 39 patients in our study; 21 patients (53.8%) showed symptoms of depression at the time of evaluation and, of those, 15 (71.4%) had hypoechogenic raphe structures. Thirty patients (76.9%) had a history of depressive episodes, 19 (63.3%) of them with hypoechogenic raphe structures. All 9 patients without a history of depressive episodes showed normal echogenicity of raphe structures (sensitivity 63.3%, specificity 100%). Twelve (70.6%) of the 17 patients with Huntington disease who showed psychiatric disturbances prior to the occurrence of motor symptoms exhibited pathological raphe echogenicity (sensitivity 70.6%, specificity 68.2%). Limitations: Most of the patients were taking antichoreatic medication, which particularly influences neurologic status. Thus, a meaningful interpretation of the correlation between TCS findings and neurologic features was limited. Conclusion: As a novel finding, a relation between mesencephalic raphe echogenicity and depressive state could be identified in patients with Huntington disease. An alteration of the serotonergic brain stem raphe might be involved in the pathogenesis of depression in these patients.

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“…As hyperechogenicity in the parenchymal sonography was believed to be due to metal accumulation, a post mortem analysis was performed in individuals suffering from dystonia. This study could rule out an increased copper and manganese content in the lenticular nucleus compared to controls [16]. Recently, our group was able to show, that patients suffering from neurodegeneration with brain iron accumulation (NBIA), a disease with childhood onset which is caused by mutations in enzymes dealing with iron metabolism in the brain, also shows increased echogenicity in the SN compared to healthy controls [17].…”

Section: Other Movement Disordersmentioning

confidence: 99%

Transcranial ultrasound in adults and children with movement disorders

Liman

Bähr

Kermer

2012

Perspectives in Medicine

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Since the first discovery, that ultrasound can overcome the skull allowing examination of the intracranial blood-flow as well as the first description of substantia nigra (SN) signal alterations via B-mode sonography, a plethora of applications especially in the field of movement disorders have been fostered. Up to now, however, most studies investigated adult individuals, even though numerous of the diseases studied have their onset already during childhood or adolescence. This overview summarizes recent studies of transcranial B-mode sonography (TCS) within the movement disorder field and outlines potential implications for pediatric applications.For decades it was thought, that it is impossible to penetrate the intact scull by ultrasound for the visualization of intracranial structures and measurement of blood flow in the circle of Wilis. It was in the 1980s when Aaslid et al. could demonstrate that blood flow of the intracranial arteries can be analysed by transcranial Doppler sonography [1]. In following years a rapid development of ultrasound systems evolved until Becker et al. were able to display the substantia nigra (SN) reproducibly via B-Mode sonography in 1995. Moreover, they were able to demonstrate an enlargement and hyperechogenicity of the SN area patients suffering from Parkison's disease (PD) [2]. Up to now, this finding was reproduced by many independent groups and transcranial B-mode sonography (TCS) developed into an expanding research field for a multitude of medical applications. Here, we will shortly

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Increased tissue copper and manganese content in the lentiform nucleus in primary adult-onset dystonia

Cited by 57 publications

References 18 publications

Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

Depression in patients with Huntington disease correlates with alterations of the brain stem raphe depicted by transcranial sonography

Transcranial ultrasound in adults and children with movement disorders

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