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G Castelnovo

Publications and source records attributed to G Castelnovo.

At least 19 recordsLinked to original sources
PubMed2006

[Camptocormia disclosing Parkinson's disease].

Camptocormia is characterised as an extreme bent-forward posture of the trunk that disappears in the recumbent position. On X-ray, trunk flexion appears without vertebral rotation as in scoliosis. The condition is a well-known complication of Parkinson's disease (PD) at the late stage. The authors present the case of a 77-year-old woman affected by severe camptocormia, which appeared and worsened in less than 6 months and hindered gait. Despite no signs of PD, neuro-imaging (DAT-Scan) showed an L-Dopa transducer decrease in putamens. A few weeks later, bradykinesia appeared and the clinical diagnosis of PD became more obvious. L-Dopa improved bradykinesia but did not change the bent-spine posture. A 1-year follow-up showed no other signs of PD other than bradykinesia, but the camptocormia was unchanged.

Aged↗
PubMed2005

[Assessment of idiopathic Parkinson's disease in physical medicine and rehabilitation].

Parkinson's disease (PD) is a chronic disease associated with motor impairments (bradykinesia, rigidity, tremor and postural disorders), cognitive disorders and dysautonomia. Most symptoms are greatly improved by dopatherapy during the first stages, then signs of treatment ineffectiveness or intolerance occur that signal the beginning of motor and cognitive decline. This evolution signified the need to develop an effective tool to measure the effectiveness of drugs or surgery in PD and has had the Movement Disorder Society to propose 20 years ago a tool to assess such patients: the Unified Parkinson's Disease Rating Scale (UPDRS). This scale has a good internal consistency and a good interrater reliability. Yet, some impairments, especially of cognitive origin, are evaluated too succinctly and need complementary scales. As well, other disorders such as bladder disorders are not included, nor is quality of life studied despite the impact of PD on daily life. Specific scales have been proposed. UPDRS may be well-adapted to PD follow-up in the physical medicine and rehabilitation context by measuring treatment effectiveness, detecting Dopa ineffectiveness or complications and assessing patients' handicap in daily activities. The evolution of UPDRS will improve the qualities of the scale and contribute to better determining the various stages of the disease.

Activities of Daily Living↗
PubMed2005

[Spontaneous thrombosis of lesion-free carotid arteries: a retrospective analysis of eight patients].

Strokes are rarely secondary to spontaneous carotid artery thrombosis. The objectives of this retrospective analysis were to define characteristic features and the clinical course. The study population included eight patients (6 females/2 males) seen at six university neurological centers. Age of onset was 46.5 years (range 38-52). Half of the patients had no vascular risk factor. Symptoms were TIA (n=1), strokes (n=7). Echotomography revealed intraluminal thrombus, with occlusion in 2 cases. Thrombi were found in common carotid artery (n=3), carotid bifurcation (n=2) and internal carotid artery (n=3). The thrombus was mobile in 4 cases. Seven patients were treated by anticoagulation therapy, one by surgery because of recurrent TIA. Further echotomographic exams revealed total resolution (3 cases) or decrease of the thrombus (3 cases). Occlusion was definitive in one patient. A cause was identified in six patients: acute leukemia (n=1), thrombocytopenic purpura (n=1), iron deficiency anemia (n=4).

Adult↗
PubMed2002

Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).

BACKGROUND: Familial adult myoclonic epilepsy (FAME) is defined by autosomal dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, nonprogressive course, abnormality of polyspikes and waves on examination by EEG and photosensitivity, giant somatosensory evoked potentials, enhancement of C reflex, and premyoclonus spike detected by means of the jerk-locked averaging EEG method. These findings were also observed in patients with benign adult familial myoclonic epilepsy (BAFME) and patients with familial cortical tremor. FAME and BAFME have been described only in Japan. The genes responsible for FAME and BAFME were mapped in the same genetic interval in 8q22.3-q24.1 OBJECTIVE: To study clinical and genetic characteristics of a European family with FAME. METHODS: A four-generation European kindred presenting with FAME, including 18 members, is described. Clinical analysis was performed on 15 living subjects and electrophysiologic study on 5 patients. Linkage analysis was performed with fluorescent microsatellites encompassing the FAME/BAFME locus (8q23.3-q24.1). RESULTS: Ten living and three deceased relatives had the clinical characteristics of FAME. Mean age at onset of the 10 living patients was 41 years (range, 30-60 years). Eight of the 13 affected subjects had generalized tonic-clonic seizures. Electrophysiologic studies confirmed the diagnosis of FAME in the five patients studied. The pattern of inheritance was consistent with an autosomal dominant inheritance. The locus responsible for FAME/BAFME was excluded. CONCLUSION: Observation of a European family extends the occurrence of familial adult myoclonic epilepsy to non-Japanese patients. Exclusion of linkage of this family to the locus for familial adult myoclonic epilepsy/benign adult familial myoclonic epilepsy established the genetic heterogeneity of this disorder.

Adult↗
PubMed2002

[Meningo encephalitis revealing Q fever: two cases and a review of the literature].

Q fever is a zoonosis caused by Coxiella burnetii. The acute Q fever is usually characterized by a self-limited flu-like syndrome, fever, pneumonia and hepatitis. Symptoms of the chronic Q fever (evolution>3 months) mainly consist of endocarditis with negative culture. Focal neurological symptoms are rarely observed. Neurological symptoms of acute Q fever consist of meningitis or meningo-encephalitis. Neurological symptoms of chronic Q fever are cerebral embolisms from Coxiella burnetii infected heart valves. We herein report two patients with meningoencephalitis revealing acute Q fever.

Adolescent↗
PubMed2001

The prevalence of Sjögren syndrome in patients with primary progressive multiple sclerosis.

OBJECTIVE: To assess the prevalence of Sjögren syndrome (SS) in patients with primary progressive MS (PPMS). BACKGROUND: SS may be considered in the differential diagnosis of MS. Age at onset and clinical presentation are similar in SS and PPMS. However, occurrence of SS in definite cases of PPMS has been recently reported. METHODS: Proposed clinical and laboratory diagnostic criteria for SS were systematically assessed in 60 consecutive patients with PPMS. The authors questioned all patients about xerophthalmia and xerostomia, biopsied minor salivary glands, and performed a Schirmer test, a salivary gland scintigraphy, and anti-Ro (SSa) and anti-La (SSb) serologies. RESULTS: Ten patients (16.6%) met four or more criteria for SS. This prevalence is higher than in the general population (1 to 5%) and implies that SS can mimic PPMS. CONCLUSIONS: The authors propose that SS should be screened for systematically in patients with PPMS.

Adult↗
PubMed2001

[Rapidly progressive dementia disclosing primary angiitis of the central nervous system].

Angiitis of the central nervous system involves a wide spectrum of clinical symptoms. Complementary exams (CSF, neuroradiological exams) are not very specific and sensitive. Diagnostic procedures often require cortical and leptomeningeal biopsy. Treatment, based on corticosteroids and cyclophosphamid, have greatly improved prognosis. We report a rapidly progress dementia syndrome that revealed angiitis of the central nervous system. Corticosteroid treatment did not prevent a fatal outcome. Autopsy findings confirmed the diagnosis of central nervous leucocytoclastic angiitis.

Aged↗
PubMed1999

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

OBJECTIVE: To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum. BACKGROUND: EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. The mutated gene, CACNA1A, located on chromosome 19, encodes the alpha1A subunit of a voltage-dependent calcium channel. So far, only three CACNA1A mutations have been identified-in two EA2 families and in one sporadic case. These three mutations disrupted the reading frame and led to truncated proteins. Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats). However, except for SCA-6, these genotype-phenotype correlations relied on the analysis of very few families. METHODS: To characterize CACNA1A mutations, eight familial and seven sporadic EA2 patients were selected. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis. In addition, the length of the CAG repeat has been determined in all patients. RESULTS: Seven new mutations were detected in four multiple case families and three sporadic cases. Six of them lead most likely to truncated or aberrant proteins. CAG repeat sizes were in the normal range. CONCLUSION: These data clearly establish the specificity of EA2 mutations compared with SCA-6 and familial hemiplegic migraine. Detailed clinical analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia or severe, permanent, and isolated cerebellar ataxia).

Adolescent↗
PubMed1998

[Friedreich's ataxia and hereditary vitamin E deficiency. Case study].

A 24-year-old patient, born from consanguineous parents, consulted for cerebellar syndrome, ataxia, loss of proprioception, bilateral Babinski sign and lower limbs areflexia. No mutation on Friedreich's ataxia gene was found. Plasmatic vitamin E level was extremely low. Point mutation on gene coding for alpha-tocopherol transfer protein (alpha-TTP) confirmed the diagnosis of familial isolated vitamin E deficiency (AVED). Vitamin E therapy restored normal serum levels and neurological symptoms were stabilized.

Adult↗
PubMed1997

Poor sleep in adolescents: a study of 869 17-year-old Italian secondary school students.

Subjective sleep quality and its related factors were investigated in 869 (530 F, 339 M) 17-year-old adolescents, who were selected from the pupils of state-run secondary schools in the city of Pavia in the north west of Italy. The study was conducted cross sectionally, and it consisted of a questionnaire based survey. One hundred and forty-two subjects (16.5% of the whole sample, 19% of the females and 11.7% of the males) met the criteria chosen for definition as poor sleepers (namely, a complaint of 'non restorative nocturnal sleep', 'often' or 'always' over the previous 12 mo). A significant association was found between chronic poor sleep and (1) gender (female) (2) emotional factors, such as worries, anxiety and depression (3) poor sleep hygiene (4) arousal related parasomnia. Only 4% of poor sleepers took sleep promoting drugs (including benzodiazepines, homeopathic products and other medications), generally without seeking medical advice.

Adolescent↗