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Biomedical subjects

Anne Vital

Publications and source records attributed to Anne Vital.

At least 19 recordsLinked to original sources
PubMed2006

Phenotype associated with APP duplication in five families.

Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). This study describes the phenotype of this new entity. Clinical, neuropsychological, imagery and neuropathological data were reviewed. The phenotype was not dependent on the size of the duplication and there was no clinical feature of Down's syndrome. Dementia was observed in all cases; intracerebral haemorrhage (ICH) was reported in 6 (26%) and seizures occurred in 12 (57%) of 21 patients. Age of onset of dementia ranged from 42 to 59 years, ICH from 53 to 64 years and age at death from 46 to 75 years. The neuropathological findings in five cases demonstrated Alzheimer's disease and severe CAA lesions that were reminiscent from those reported in brains of Down's syndrome patients. A striking feature consisted in intraneuronal Abetax-40 accumulation located in the granular cell layer of the dentate gyrus and in the pyramidal cell layer of the Ammon's horn.

Adult↗
PubMed2006

Automatized assessment of 1p36-19q13 status in gliomas by interphase FISH assay on touch imprints of frozen tumours.

Molecular genetic analyses have demonstrated that combined losses in 1p36 and 19q13 were associated with a good response to treatment and a higher survival rates in oligodendrogliomas (O). The presence of such deletions in a subset of mixed oligoastrocytomas (OA) also suggests that 1p-19q status may assist the histological classification of gliomas. Representative frozen fragments of 25 patients with a primary grade II or III glioma [2 O, 8 astrocytic tumours (A), 15 OA] were selected and a sensitive interphase fluorescent in situ hybridization (FISH) analysis was developed on serial touch preparations using two sets of probes. A positive detection threshold at 6% was reached by the use of both touch imprints and a new set of LSI 1p36/19q13 Abbott-Vysis probes. Strong and discrete hybridization signals of these probes facilitated the following FISH analysis; indeed, an automatic analysis of the hybridization patterns (Metafer 4, Metasystems, Althlussheim, Germany) was compared with visual counting. Both methods were highly correlated and combined 1p-19q losses found in five tumours with an oligodendroglial component (2 O, 3 OA). The automatic system allowed the capture and storage of hybridization patterns and the processing of several slides. A convenient checking of the nuclei gallery was done with direct recall and visual verification on the slides of nuclei with ambiguous hybridization patterns. The recently developed probes together with automatic counting may facilitate multicentric evaluation and standardization of 1p-19q assessment in gliomas.

Astrocytoma↗
PubMed2006

[Neuromuscular biopsy and diagnosis of vasculitis].

One characteristic histological lesion on biopsy specimens is mandatory to establish the diagnosis of vasculitis. Combined nerve and muscle biopsies, by the same cutaneous incision, improve significantly the percentage of positive results. Nerve fragments should be taken in every patient presenting sensory manifestations. Such vasculitic lesions are present in medium-sized arterioles and/or small vessels, and correspond mainly to 4 necrotizing vasculitis: panarteritis nodosa (PAN), microscopic polyangiitis (MPA), Churg and Strauss syndrome and Wegener granulomatosis. Microvasculitis should be added to these classical entities, because it corresponds to small vessel wall infiltration by inflammatory cells, as observed in PAN and MPA, but without any necrosis. Microvasculitis has to be differentiated from the inflammatory cell infiltrates surrounding small vessels. However, such perivascular inflammatory cell infiltrates enable the diagnosis of probable vasculitis when associated with clusters of neo-vessels, hemosiderin deposits, or a focal damage of nerve fibers. Grossly, one third of vasculitis diagnosis is confirmed on muscle fragments, a second third on nerve fragments, and the last third on both nerve and muscle fragments. Moreover, in the search for vasculitis, an unpredicted diagnosis of lymphoma or amyloidosis is occasionally established on the neuro-muscular biopsy.

Diagnosis, Differential↗
PubMed2006

Neuro-muscular biopsy in Churg-Strauss syndrome: 24 cases.

Churg-Strauss syndrome (CSS) is a distinctive clinical entity in which systemic vasculitis, associated with eosinophilia, occurs almost exclusively in individuals with adult-onset asthma. The major complications of the condition result from damage to the lungs, heart, and peripheral nerves. Necrotizing vasculitis with eosinophils in the cellular infiltrate, vascular or perivascular infiltration by eosinophils in absence of vessel wall necrosis, extra-vascular eosinophil infiltrates, and vascular or extra-vascular granuloma are histopathological features supportive of CSS. As the peripheral nerve disease often dominates the clinical picture, the peripheral nerve biopsy may be decisive in establishing the diagnosis. In this retrospective study of neuro-muscular biopsies in 24 CSS cases, the authors give an extensive description of neuropathological lesions associated with this disorder. Fifteen patients (62.5%) exhibited eosinophils either in extra-vascular infiltrates or in vessel walls, and 6 of them (25%) had an associated necrotizing vasculitis. Granulomas were found in only 3 cases (12.5%). The clinical diagnosis of CSS was supported in 15 out of the 24 patients (62.5%), in the nerve in 2 cases (8.3%), in the muscle in 8 cases (33.3%), and in both nerve and muscle in 5 others (20.8%).

Adult↗
PubMed2006

Combined nerve and muscle biopsy in the diagnosis of vasculitic neuropathy. A 16-year retrospective study of 202 cases.

We reviewed 202 biopsies performed on patients with suspected vasculitic neuropathy, of which 24 Churg-Strauss cases are studied separately. Specimens from the superficial peroneal nerve and peroneus brevis muscle were taken simultaneously by one incision. Without taking into account constitutional signs, systemic involvement was present in 131 patients, whereas the remaining 47 corresponded to non-systemic patients with lesions limited to peripheral nervous system and adjoining muscles. Diagnosis of panarteritis nodosa or microscopic polyangiitis, according to the size of involved vessels, was attested by an infiltration of vessel walls by inflammatory cells associated with fibrinoid necrosis or sclerosis. Microvasculitis was diagnosed when inflammatory infiltration concerned small vessels with few or no smooth-muscle fibers and without any necrosis. Microvasculitis was present in 11 of 46 non-systemic cases, and this predominance is statistically significant. Isolated perivascular cell infiltrates in the epineurium were considered not significant but allowed the diagnosis of 'probable vasculitis' if associated with at least one of the following features: regenerating small vessels, endoneurial purpura, asymmetric nerve fiber loss, and/or asymmetric acute axonal degeneration. Necrotizing vasculitis was visible in 60 cases: in nerve (16 cases), in muscle (19 cases), and both (25 cases). Microvasculitis was present in 25 cases: in nerve (19 cases), muscle (four cases), or both (two cases). Moreover, granulomatous vasculitis was found in the nerve of one non-systemic patient presenting also sarcoid granulomas in muscle. There were 24 'probable vasculitis' and 68 negative cases. Muscle biopsy improved the yield of definite vasculitis by 27%.

Aged↗
PubMed2005

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA.

Age of Onset↗
PubMed2005

Atypical parkinsonism combining alpha-synuclein inclusions and polyglucosan body disease.

Adult polyglucosan body disease (APGBD) is a rare disorder affecting the central and peripheral nervous systems and in which parkinsonism is unusual. A 71-year-old man presented levodopa-unresponsive parkinsonism with urinary incontinence and recurrent syncopes of 6 years standing masquerading as atypical parkinsonism of the multiple system atrophy (MSA-P) type. Brain histopathology demonstrated massive accumulation of polyglucosan bodies particularly in the putamen. In addition, there were dense alpha-synuclein-positive cytoplasmic oligodendroglial inclusions in the pons and in the middle cerebellar peduncle. These inclusions may be either due to the chance association of MSA-P with APGBD, or pathologically related to APGBD.

Aged↗
PubMed2005

Severe neuroborreliosis: The benefit of prolonged high-dose combination of antimicrobial agents with steroids--an illustrative case.

Neuroborreliosis frequently occurs in endemic areas, whereas encephalomyelitis is uncommon. Treatment consists classically of 2 to 4 weeks of recommended antimicrobial agents with a generally good outcome. A severe case is reported combining an encephalomyelitis with an axonal polyneuropathy. Clinical improvement was observed only with the use of prolonged high dose of 2 antimicrobial agents combined with steroids.

Adult↗
PubMed2005

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.

Some mutations of the lamin A/C gene may be responsible for a combination of distinct phenotypes, such as muscular dystrophy and peripheral neuropathy. We describe muscle and peripheral nerve lesions in a patient with a dominant lamin A/C missense mutation, E33D. Myopathic and neurogenic patterns coexisted on muscle biopsy specimens, whereas the peripheral nerve presented a mixture of axonopathy and Schwann cell hypertrophy. A few abnormal nuclei were found in muscle fibers and Schwann cells. Our morphological findings in this case attest to the predominant axonal damage, but suggest possible involvement of Schwann cells in neuropathies related to laminopathies.

Amino Acid Substitution↗
PubMed2005

Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients.

We examined nerve biopsies from 24 patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and proven 17p11.2-12 duplication. There were seven males and 17 females with a mean age of 27.85 +/- 18.95 years at the time of nerve biopsy. A family history consistent with dominant inheritance was present in 17 patients. Clinical features were classical in 16 patients and were atypical in the other eight: one had calf hypertrophy; two had Roussy-Levy syndrome; one had had a subacute inflammatory demyelinating polyneuropathy 11 years earlier and presented a relapse on the form of a chronic inflammatory demyelinating polyneuropathy; one had carpal tunnel syndrome; one had a recent painful neuropathy in both legs; and two had chronic inflammatory demyelinating polyneuropathy. Onion bulb formations (OMFs) were present in every case and most of them were characteristic, whereas burnt-out or cluster-associated OMFs were less common. Depletion of myelinated fibers was severe in 20 cases (169-2927/mm2) and varied from 5187 to 3725/mm2 in three children (4-9 years old). In addition, features of macrophage-associated demyelination were observed in the last four atypical cases. Known for more than 20 years, inflammatory demyelination superimposed in the course of CMT1A has been reported in a few cases in the past few years, mainly concerning asymptomatic or atypical patients. Such an association deserves to be better known because corticotherapy improves weakness in most of these patients.

Adolescent↗
PubMed2004

Gene expression profiling and subgroup identification of oligodendrogliomas.

The histological diagnosis of low-grade astrocytomas and oligodendrogliomas (WHO grade II) is often challenging, particularly in cases that show both astrocytic and oligodendroglial differentiation. We carried out gene expression profiling on 17 oligodendrogliomas (93% with LOH 1p and/or 19q) and 15 low-grade astrocytomas (71% with a TP53 mutation), using a cDNA array containing 1176 cancer-related genes. In oligodendrogliomas, 40 genes showed on average higher expression (at least a two-fold increase) than in astrocytomas, including DES, TDGF1, TGF-beta, GABA-BR1A, Histone H4, CDKN1A, PCDH43, Rho7 and Jun-D, while 39 genes were expressed at lower levels (at least a two-fold decrease), including JNK2, ITGB4, JNK3A2, RhoC, IFI-56K, AAD14 and EGFR. Immunohistochemistry revealed nuclear staining of Jun-D in oligodendrogliomas, in contrast to the immunoreactivity of cytoplasm and cell processes in low-grade astrocytomas. Partial least-squares analysis of the 79 genes at least two-fold differentially expressed between oligodendrogliomas and low-grade astrocytomas demonstrated perfect separation of oligodendrogliomas from low-grade astrocytomas and normal cerebral white matter. Clustering analysis based on the entire gene set divided the 17 subjects with oligodendrogliomas into two subgroups with significantly different survival (log-rank test, P=0.0305; survival to 5-years, 80 vs 0%, P=0.048). These results demonstrate that oligodendrogliomas and low-grade astrocytomas differ in their gene expression profiles, and that there are subgroups of oligodendroglioma with distinct expression profiles related to clinical outcome.

Adult↗
PubMed2004

Pathologic prion protein spreading in the peripheral nervous system of a patient with sporadic Creutzfeldt-Jakob disease.

BACKGROUND: Involvement of the peripheral nervous system in the pathogenesis of prion diseases is becoming increasingly evident. However, pathologic protease-resistant prion protein deposition in the peripheral nerves of patients with Creutzfeldt-Jakob disease has never been demonstrated, to our knowledge. OBJECTIVE: To determine whether mutated prion protein accumulation could be shown in the peripheral nervous system of patients with sporadic Creutzfeldt-Jakob disease. DESIGN: Autopsy study. PATIENTS: Three patients with sporadic Creutzfeldt-Jakob disease. INTERVENTIONS: Study of the brain, spinal cord, and sciatic and superficial peroneal nerves by immunohistochemistry and Western blot analysis. MAIN OUTCOME MEASURE: Demonstration of protease-resistant prion protein accumulation. RESULTS: In all cases, protease-resistant prion protein accumulation was found in the brain and posterior horns of the spinal cord. In 1 case, protease-resistant prion protein deposits were also evidenced in the dorsal root ganglia and the superficial peroneal nerve. CONCLUSIONS: Protease-resistant prion protein may be found in the peripheral nervous system of some patients with sporadic Creutzfeldt-Jakob disease. However, a larger series is required to assess the incidence of peripheral nervous system involvement and to discuss the diagnostic usefulness of peripheral nerve biopsy in sporadic Creutzfeldt-Jakob disease.

Aged↗
PubMed2004

Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion.

In most cases of hereditary neuropathy with liability to pressure palsy (HNPP) the diagnosis is now assessed by molecular detection of 17p11.2 deletion. However, the family history may be missing and the clinical presentation is not always informative. In such cases, a peripheral nerve biopsy showing the characteristic focal myelin sheath thickening ("tomaculae") may be helpful. We present a retrospective study of peripheral nerve biopsies performed in 19 patients suffering from either a mononeuropathy or a generalized sensory-motor polyneuropathy, and for whom the finding of tomaculae led to a search for 17p11.2 deletion, which was confirmed secondarily. Tomaculae and other coexisting neuropathological lesions such as uncompacted myelin, "onion bulb" formations, and axonal degeneration are described and discussed in the view of previously reported data. It appears that demyelinating lesions with tomaculae are strongly suggestive of HNPP but are not specific as they may be observed in other conditions. Moreover, these features may be overlooked if axonal degeneration is marked.

Adolescent↗
PubMed2004

Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies.

We performed a retrospective study of 35 peripheral nerve biopsies (PNBs) with amyloid deposits in the endoneurium. In every case, nerve lesions were studied on paraffin-embedded fragments (PEFs) and by ultrastructural examination (USE). In addition, muscle fragments were taken and embedded in paraffin. Immunohistochemistry was performed with anti-transthyretin (TTR) serum on 19 nerve and 15 muscle PEFs. Direct immunofluorescence with anti-light-chain sera was performed on frozen nerve fragments in 19 cases. Endoneurial amyloid deposits were easily identified on routine PEF in 26 cases, after Congo red or thioflavine staining in three, and by USE in six. A dramatic myelinated fiber loss was evidenced in 34 cases (77-2970 per mm2), and features of axonal degeneration were present in every case. Segmental demyelination was observed in 10 cases. A mutation in the TTR gene was present in 14 cases, with Met30 mutation in 10 and Ala49 in four members of the same family. Amyloid deposits were strongly marked by the anti-TTR serum in 11 other cases, twice in the endoneurium, five around muscle fibers, and four in both locations. In eight patients, light-chain positivity was evidenced in endoneurial deposits, lambda in six and kappa in two. Two other patients with monoclonal gammopathy did not present any light-chain fixation. In 17 cases, amyloidosis was disclosed by PNB and 13 had a TTR pathology; eight of them, over 65 years old, correspond to a late-onset form of familial amyloid polyneuropathy which is an underdiagnosed condition.

Adult↗
PubMed2003

Inflammatory demyelination in a patient with CMT1A.

We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage-associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds.

Aged↗