Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

Ferlazzo, Edoardo; Gasparini, Sara; Pasquinelli, Gianandrea; Labate, Angelo; Gambardella, Antonio; Sofia, Vito; Cianci, Vittoria; Branca, Damiano; Quattrone, Aldo; Aguglia, Umberto

doi:10.1111/j.1468-1331.2012.03748.x

Cited by 6 publications

(5 citation statements)

References 22 publications

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“…The rectal biopsies showed FP or GRODs in 2 of these adults; however, the reliability of the findings obtained in rectal specimen was recently questioned. 27 This confirms that neuropathologic diagnosis in adult patients can be challenging and underscores the value of advances in molecular diagnosis for putative adult NCL cases. 5,28,29 Neurophysiologic findings revealed a link between the different age-dependent CLN6 phenotypes.…”

Section: Resultssupporting

confidence: 65%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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In all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature.

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Section: Resultssupporting

confidence: 65%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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“…The clinical features of this rare form of NCL are well established on the basis of findings in ten patients in four families and include dementia with motor disturbances, commonly associated with facial dyskinesias, in the absence of visual failure. The detection of fingerprint profiles or granular osmiophilic deposits by electron microscopy was mandatory for definitive diagnosis, although the significance of the biopsy in the diagnostic process of KD has been recently questioned [ 3 ], and then significantly reduced by the cloning of CTSF .…”

Section: Introductionmentioning

confidence: 99%

Brain imaging in Kufs disease type B: case reports

et al. 2015

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BackgroundThe clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF.The neuroradiological characteristics of this uncommon disease have not yet been outlined.Case presentationWe hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs.Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.ConclusionWhite matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.

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“…5 After 5 days of suspension, skeletal muscle highlights signs of atrophy in response to decreased mechanical loading. 6 In fact, at muscle-tendon interface misaligned sarcomeres, with absent Z-lines, were observed. A lower number of, characteristically not bifurcated, muscle-tendon interdigitations also appears.…”

Section: Ultrastructural Changes Of Human Oocyte After Cryopreservationmentioning

confidence: 99%

“…FP inclusions were mostly located in VSMC; ganglion cells were never seen. 6 By reviewing 440 renal biopsies we found identical FP inclusions in VSMC of renal arterioles of human kidneys. 7 We conclude that the value of superficial rectal biopsy as a diagnostic tool in KD is limited.…”

Section: Ultrastructural Evidence Of Allergic-like Host Reaction In Hmentioning

confidence: 99%

“…Recent studies have demonstrated that the examination of skin biopsies is able to exclude more than 90% of cases in which LDS is being considered, and that it is the most cost-effective 2 screening tool in patients with previously unrecognized storage diseases. 3,4 Moreover it has been reported that some neurodegenerative pathologies, such as ferritinopathy, 5 neuronal intranuclear inclusion disease, 6 and a-synnucleinopathies 7 can be diagnosed using skin biopsy. Based on current knowledge it is likely that the EM examination of skin biopsy in the future will maintain its role for preliminary identification of new disorders, for diagnostic work-up to confirm or rule out a storage disorders and for identify some neurodegenerative disorders.…”

Section: Giovanna Cenacchi Gipu Coordinatormentioning

confidence: 99%

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XXII Annual Meeting of the Italian Group for Ultrastructural Pathology SIAPEC - GIPU

Editors¹

2012

Eur J Histochem

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The Italian Group for Ultrastructural Pathology, GIPU, is a section of the Italian Society for Anatomical Pathology and Cytopathology, SIAPEC, and belongs to the Electron Microscopy Working Group, EMWG of the European Society of Pathology. GIPU collects Italian pathologists utilizing transmission and scanning electron microscope (EM) to investigate subcellular alterations which cannot be demonstrated by other morphological techniques such as light microscopy, confocal laser scanning microscopy, and immunohistochemistry in diagnostic and experimental pathology. ‘‘The Big Eye’’ as it was called the electron microscope in the 1960s and 1970s. By the mid-1980s, however, the green glow of the electron microscope was partially off: The use of electron microscopy in diagnostic histopathology has declined significantly in recent years, largely as a result of advances in immunocytochemistry and molecular techniques. However, EM remains an important diagnostic tool in several well-defined areas of diagnostics and largely employed in many fields of experimental pathology. Consequently, there is still a need for EM services and labs. The generation of EM images requires highly skilled and specialised scientific staff; the current workforce with these skills is ageing and there is a suspicion that new staff are not being trained to take over their role. GIPU is still devoted to organize training school in EM dedicated to young pathologists and researchers promoting knowledges in the innovative EM methods and techniques. We would like to acknowledge Professor Elisabetta Falcieri to kindly host this XXII Annual Meeting of GIPU in the beautiful Urbino. The scientific program reflects nearly all the main topics in diagnostic and experimental pathology focusing on neuromyopathology, storage diseases, ciliary dyskinesia, pediatric and reproductive system pathology. Eighteen oral communications will give the opportunity to young ultrastructural pathologists to discuss together and with expert pathologists.

Giovanna Cenacchi, GIPU Coordinator

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Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

Cited by 6 publications

References 22 publications

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Brain imaging in Kufs disease type B: case reports

XXII Annual Meeting of the Italian Group for Ultrastructural Pathology SIAPEC - GIPU

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