Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective

Lachman, Ralph S.

doi:10.1002/(sici)1096-8628(19970303)69:1<33::aid-ajmg7>3.0.co;2-u

Cited by 34 publications

(11 citation statements)

References 83 publications

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“…Spinal stenosis, another type of spinal deformity, can be seen in bone dysplasias, particularly achondroplasia [10]. Although we did not observe this in our patient she was advised that she should be evaluated later on.…”

Section: Discussioncontrasting

confidence: 57%

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy

Koçyiğit

Arkun

Özkınay

et al. 2000

Clinical Rheumatology

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Spondyloepiphyseal dysplasia tarda with progressive arthropathy, described by Wynne-Davies et al., is a rare autosomal recessive disorder. It is characterised by generalised platyspondyly and epiphyseal involvement, with enlargement of both ends of the short tubular bones of the hands. Clinical features include onset in childhood, a disproportionately short stature and premature osteoarthritis. We describe the clinical and radiographic findings of a young woman suffering from spondyloepiphyseal dysplasia tarda with progressive arthropathy.

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Section: Discussioncontrasting

confidence: 57%

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy

Koçyiğit

Arkun

Özkınay

et al. 2000

Clinical Rheumatology

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“…[9] Porencephalic cysts have been reported only once earlier. [3] The authors proposed that the persistence of open sutures and fontanelles allows the normal but unopposed intra-ventricular fluid pressure to progressively distend the brain parenchyma.…”

Section: Discussionmentioning

confidence: 99%

A patient with pycnodysostosis presenting with seizures and porencephalic cysts

Kumar¹

2014

J Neurosci Rural Pract

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Pycnodysostosis is a rare autosomal recessive disorder caused by mutations in the cysteine protease Cathepsin K gene located on chromosome 1q21. It has a well characterized skeletal phenotype which include short stature, generalized increased bone density with propensity of fractures, open calvarial sutures and fontanelle, dental abnormalities, obtuse mandibular angle, resorption of lateral end of clavicle, acro-osteolysis, and in some cases visceromegaly. Central nervous system involvement is very rare and porencephalic cysts has been reported only once, the cause being hypothesised to be an imbalance between the growing brain, its vascular supply and intraventricular fluid pressure. We had a patient with bilateral frontal lobe porencephalic cysts; the patient presenting with complex partial seizures. Cathepsins have been found to be involved in neurological diseases and role of proteases has been well established in gliosis.

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“…Mental and motor development in patients with pycnodysostosis is usually normal, [146][147][148] although mental retardation has occasionally been reported. To date, only one out of 10 cases in our cohort has mild to moderate mental retardation and needs special education (unpublished data, ST).…”

Section: Human Cathepsin K Deficiency and Its Phenotypementioning

confidence: 99%

Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences

Brὂmme

Panwar

Turan

2016

Expert Opinion on Drug Discovery

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Several selective cathepsin K inhibitors have been developed and evaluated in preclinical and clinical studies. Although all compounds were effective in reducing bone resorption markers, the development of some compounds was terminated either due to side effects or market competition. The most advanced compound is odanacatib, which significantly reduced bone fracture rates in a 5-year trial but still exhibits safety concerns. The analysis of mouse and human catK deficiencies sheds some light on the consequences of a cathepsin K inhibitor treatment. How predictive the knockout phenotypes are regarding long-term cathepsin K treatment remains unclear. Clearly, more studies are needed to understand the mechanism of the observed side effects and novel approaches are needed to make CatK inhibitors either osteoclast-specific or selective for the inhibition of the collagen matrix without affecting the other activities of the protease.

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Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective

Cited by 34 publications

References 83 publications

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy

A patient with pycnodysostosis presenting with seizures and porencephalic cysts

Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences

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