scholarly journals Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

2009 ◽  
Vol 150B (4) ◽  
pp. 570-574 ◽  
Author(s):  
Wendy H. Raskind ◽  
Mark Matsushita ◽  
Beate Peter ◽  
Jeffrey Biberston ◽  
John Wolff ◽  
...  
Keyword(s):  
Large Family ◽  
Chromosome 3P21

Practice Changes Based on Research Findings

1975 ◽  
Vol 56 (4) ◽  
pp. 242-250 ◽  
Author(s):  
Patrick V. Riley
Keyword(s):  
Decision Making ◽  
Large Family ◽  
Counseling Services ◽  
Follow Up Study ◽  
Research Findings

A follow-up study of clients of a large family agency adds a new dimension to decision-making and leads to recommendations to improve counseling services

scholarly journals Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

2020 ◽  
Vol 182 (1) ◽  
pp. 57-65 ◽  
Author(s):  
Lucie Coppin ◽  
Margaux Dufosse ◽  
Pauline Romanet ◽  
Sophie Giraud ◽  
Marie-Odile North ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Clinical Characteristics ◽  
Large Family ◽  
Germline Mutations ◽  
New Genes ◽  
Asymptomatic Patients ◽  
Uncertain Significance ◽  
Design And Methods ◽  
Familial Primary Hyperparathyroidism

Objective Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most frequently involved being MEN1, CDC73 = HRPT2 and CASR. During the last few years, new genes have been described as responsible for the development of PHPT such as GCM2. These genes are not systematically included in PHPT genetic screening yet. The aim of this work was to assess the importance of GCM2 genetic analysis in PHPT to determine if this gene should be included in gene panel investigated for this disease. Design and methods The TENGEN network (French Oncogenetic Network of Neuroendocrine Tumors) collected and interpreted allelic variants according to the clinical characteristics of the GCM2-positive patients identified through genetic testing performed in French laboratories (713 patients with PHPT). Results From 713 patients with PHPT included in this study, 85 (6.6%) carried at least one GCM2 variant. A total of 12 variants classified as uncertain significance or likely pathogenic were reported in 47 patients. Their mean age at PHPT diagnosis was 49 years. Additionally, the investigation of a large family showed that GCM2 variants could be associated with low penetrance. Conclusion We provide a description and interpretation for GCM2 variants identified in a French population. We suggest that this gene should be included in genetic screening of patients with PHPT and propose the follow-up of asymptomatic patients carrying such variants for calcemia.

Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment

Cephalalgia ◽  
2017 ◽  
Vol 38 (6) ◽  
pp. 1167-1176 ◽  
Author(s):  
Elisabetta Indelicato ◽  
Wolfgang Nachbauer ◽  
Andreas Eigentler ◽  
Evelin Donnemiller ◽  
Michaela Wagner ◽  
...  
Keyword(s):  
Neuropsychological Testing ◽  
Large Family ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Interval Therapy ◽  
Routine Basis ◽  
Clinic Medical

Background Familial hemiplegic migraine (FHM) is a rare, genetic form of migraine with aura. The severity of the aura imposes an effective prophylaxis that is currently based on standard anti-migraine drugs. To this concern, only short-term reports are currently available. Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. Medical history, general and neurological examination as well as therapeutic approaches were recorded regularly on a routine basis for an average period of 13 years (range 9–15 years). Brain imaging studies and EEG data were also collected. Results Our long-term follow-up revealed that ictal manifestations, which usually improve after the adolescence, may reoccur later in the adulthood. Permanent neurological signs as assessed by means of clinical evaluation as well as follow-up MRIs, EEGs and neuropsychological testing remained stable. Interval therapy with non-selective calcium antagonists reduced the burden of migraine attacks and was well tolerated in the long term.

Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation

Cephalalgia ◽  
2016 ◽  
Vol 37 (8) ◽  
pp. 737-755 ◽  
Author(s):  
N Pelzer ◽  
DE Blom ◽  
AH Stam ◽  
LS Vijfhuizen ◽  
ATM Hageman ◽  
...  
Keyword(s):  
Extended Family ◽  
Family Members ◽  
Large Family ◽  
Clinical Information ◽  
Familial Hemiplegic Migraine ◽  
Viral Meningitis ◽  
Psychomotor Retardation ◽  
Hemiplegic Migraine

Background Familial hemiplegic migraine (FHM) is a rare monogenic migraine subtype characterised by attacks associated with transient motor weakness. Clinical information is mainly based on reports of small families with only short follow-up. Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. Patients and methods After diagnosing FHM in a patient with severe attacks associated with coma and fever, we identified eight more family members with FHM and one with possible FHM. All family members were prospectively followed for 15 years. In total 13 clinically affected and 21 clinically non-affected family members were genetically tested and repeatedly investigated. Results A novel p.Arg348Pro ATP1A2 mutation was found in 14 family members: 12 with clinical FHM, one with psychomotor retardation and possible FHM, and one without FHM features. In 9/12 (75%) family members with genetically confirmed FHM, attacks were severe, long-lasting, and often associated with impaired consciousness and fever. Such attacks were frequently misdiagnosed and treated as viral meningitis or stroke. Epilepsy was reported in three family members with FHM and in the one with psychomotor retardation and possible FHM. Ataxia was not observed. Conclusion FHM should be considered in patients with recurrent coma and fever.

Psychiatric Illness in a Large Family with Familial Hyperparathyroidism

1970 ◽  
Vol 117 (541) ◽  
pp. 693-698 ◽  
Author(s):  
Thomas A. Flanagan ◽  
Donald W. Goodwin ◽  
Philip Alderson
Keyword(s):  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Psychiatric Illness ◽  
Incidental Finding ◽  
Family Members ◽  
Elevated Serum ◽  
Large Family ◽  
The Family ◽  
Familial Hyperparathyroidism

In 1964 Cutler et al. (1) reported on a family in which 11 members apparently had primary hyperparathyroidism. Seven cases were diagnosed at surgery; four other members had elevated serum calcium and other evidence of the disease. It was noted as an incidental finding that two of the affected members also suffered from severe psychiatric illness. The present study is a six-year follow-up investigation of the family from a psychiatric viewpoint, using non-hyperparathyroidism family members as controls to explore the possible relation of hyperparathyroidism to psychiatric illness.

Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up

1995 ◽  
Vol 18 (3) ◽  
pp. 333-340 ◽  
Author(s):  
J. Amiel ◽  
J. C. Maziere ◽  
I. Beucler ◽  
M. Koenig ◽  
L. Reutenauer ◽  
...  
Keyword(s):  
Vitamin E ◽  
Large Family ◽  
Extensive Study ◽  
Vitamin E Deficiency
Sign in / Sign up

Export Citation Format

Share Document