scholarly journals P.088 Dysautonomia and Diabetes: A Prodrome to Fatal Familial Insomnia (FFI)

2021 ◽  
Vol 48 (s3) ◽  
pp. S44-S44
Author(s):  
RR Liu ◽  
N Bendahan ◽  
DE Briggs ◽  
GH Jansen ◽  
S Taylor ◽  
...  
Keyword(s):  
Sleep Disturbances ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Disease Onset ◽  
Fatal Familial Insomnia ◽  
Therapeutic Interventions ◽  
Healthy Male ◽  
Autonomic Dysfunctions ◽  
Timing Of Onset ◽  
Pathological Confirmation

Background: Fatal Familial Insomnia (FFI) is an autosomal dominant multisystem prion disease, with sleep disorders often being the first presentation. Although autonomic dysfunctions are key features, the frequency and timing vary between reports, and may accompany early insomnia. Moreover, endocrine changes are reported, but diabetes rarely is - with unclear timing of onset in relation to the insomnia. Methods: N/A Results: Here we present a 46-year-old previously healthy male, who within 22 months prior to the onset of sleep disturbances, developed hypertension and diabetes. Then within 3-4 months after onset of sleep disturbances development tachycardia and diaphoresis. His sleep continued to deteriorate, and later developed bulbar impairment, ataxia, diplopia, sleep apnea and cognitive decline. He passed away 20 months from onset of insomnia. Polysomnography showed status dissociates and central apnea. He had positive genetic testing, PRNP c.532G>A (p.Asp178Asn) and PRNP c.385A>G (pMet129Val), a pathological confirmation, and a positive family history Conclusions: Here diabetes and hypertension significantly preceded sleep disturbances, and tachycardia and diaphoresis developed shortly after. This illustrates that dysautonomia and endocrine dysfunction may be unrecognized prodromes in some cases of FFI, and could be an early marker of clinical disease onset and therapeutic interventions, especially in genetically confirmed asymptotic patients.

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

2013 ◽  
Vol 260 (8) ◽  
pp. 2124-2129 ◽  
Author(s):  
Ana Potic ◽  
Aleksandra M. Pavlovic ◽  
Graziella Uziel ◽  
Dusko Kozic ◽  
Jelena Ostojic ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Lamin B1 ◽  
Autonomic Dysfunctions ◽  
Phenotypic Variant

scholarly journals Multiple Sclerosis in Malaysia: Demographics, Clinical Features, and Neuroimaging Characteristics

2013 ◽  
Vol 2013 ◽  
pp. 1-10 ◽  
Author(s):  
S. Viswanathan ◽  
N. Rose ◽  
A. Masita ◽  
J. S. Dhaliwal ◽  
S. D. Puvanarajah ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
Demyelinating Disease ◽  
Age At Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Demyelinating Diseases ◽  
Lesion Length ◽  
Relapsing Remitting ◽  
Spectrum Disorders

Background. Multiple sclerosis (MS) is an uncommon disease in multiracial Malaysia. Diagnosing patients with idiopathic inflammatory demyelinating diseases has been greatly aided by the evolution in diagnostic criterion, the identification of new biomarkers, and improved accessibility to neuroimaging in the country.Objectives. To investigate the spectrum of multiple sclerosis in Malaysia.Methods. Retrospective analysis with longitudinal follow-up of patients referred to a single tertiary medical center with neurology services in Malaysia.Results. Out of 245 patients with idiopathic inflammatory demyelinating disease, 104 patients had multiple sclerosis. Female to male ratio was 5 : 1. Mean age at onset was 28.6 ± 9.9 years. The Malays were the predominant racial group affected followed by the Chinese, Indians, and other indigenous groups. Subgroup analysis revealed more Chinese having neuromyelitis optica and its spectrum disorders rather than multiple sclerosis. Positive family history was reported in 5%. Optic neuritis and myelitis were the commonest presentations at onset of disease, and relapsing remitting course was the commonest disease pattern observed. Oligoclonal band positivity was 57.6%. At disease onset, 61.5% and 66.4% fulfilled the 2005 and 2010 McDonald’s criteria for dissemination in space. Mean cord lesion length was 1.86 ± 1.65 vertebral segments in the relapsing remitting group as opposed to 6.25 ± 5.18 vertebral segments in patients with neuromyelitis optica and its spectrum disorders.Conclusion. The spectrum of multiple sclerosis in Malaysia has changed over the years. Further advancement in diagnostic criteria will no doubt continue to contribute to the evolution of this disease here.

scholarly journals Identification of Risk Factors to Predict the Occurrences of Relapses in Individuals with Schizophrenia Spectrum Disorder in Iran

2021 ◽  
Vol 18 (2) ◽  
pp. 546
Author(s):  
Omran Davarinejad ◽  
Tahereh Mohammadi Majd ◽  
Farzaneh Golmohammadi ◽  
Payam Mohammadi ◽  
Farnaz Radmehr ◽  
...  
Keyword(s):  
Risk Factors ◽  
Suicide Attempts ◽  
Disease Onset ◽  
Sudden Onset ◽  
Spectrum Disorder ◽  
Therapeutic Interventions ◽  
Schizophrenia Spectrum Disorder ◽  
Schizophrenia Spectrum ◽  
History Of ◽  
Log Normal

Schizophrenia Spectrum Disorder (SSD) is a chronic psychiatric disorder with a modest treatment outcome. In addition, relapses are commonplace. Here, we sought to identify factors that predict relapse latency and frequency. To this end, we retrospectively analyzed data for individuals with SSD. Medical records of 401 individuals with SSD were analyzed (mean age: 25.51 years; 63.6% males) covering a five-year period. Univariate and multivariate Penalized Likelihood Models with Shared Log-Normal Frailty were used to determine the correlation between discharge time and relapse and to identify risk factors. A total of 683 relapses were observed in males, and 422 relapses in females. The Relapse Hazard Ratio (RHR) decreased with age (RHR = 0.99, CI: (0.98–0.998)) and with participants’ adherence to pharmacological treatment (HR = 0.71, CI: 0.58–0.86). In contrast, RHR increased with a history of suicide attempts (HR = 1.32, CI: 1.09–1.60), and a gradual compared to a sudden onset of disease (HR = 1.45, CI: 1.02–2.05). Gender was not predictive. Data indicate that preventive and therapeutic interventions may be particularly important for individuals who are younger at disease onset, have a history of suicide attempts, have experienced a gradual onset of disease, and have difficulties adhering to medication.

scholarly journals The Genetics of Monogenic Frontotemporal Dementia

2015 ◽  
Vol 9 (3) ◽  
pp. 219-229 ◽  
Author(s):  
Leonel T. Takada
Keyword(s):  
Frontotemporal Dementia ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Chromosome 9 ◽  
Complex Phenotype ◽  
Reading Frame ◽  
Protein Tau ◽  
Paget Disease ◽  
Fused In Sarcoma ◽  
Spectrum Disorders

ABSTRACT Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT(microtubuleassociated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN(progranulin) and C9orf72(chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in C9orf72and other genes, such as TARDBP(TAR DNA-binding protein), FUS(fused in sarcoma), UBQLN2(ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP(valosing containing protein) and other recently identified genes.

scholarly journals Syndrome D’aniridie Associé À La Dermatite Atopique: À Propos D’un Cas

2016 ◽  
Vol 12 (6) ◽  
pp. 97
Author(s):  
Abba Kaka H.Y ◽  
Salissou L. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Consanguineous Marriage ◽  
Dominant Mode ◽  
Ocular Lens ◽  
Lens Implantation ◽  
History Of ◽  
Genetic Anomaly

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

2018 ◽  
Vol 79 (3-4) ◽  
pp. 166-170
Author(s):  
Salvatore Rossi ◽  
Angela Romano ◽  
Anna Modoni ◽  
Francesco Perna ◽  
Valentina Rizzo ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Peripheral Nerves ◽  
Autosomal Dominant ◽  
Disease Onset ◽  
Clinical Signs ◽  
Myotonic Dystrophy Type ◽  
Multisystem Disorder ◽  
Myotonic Dystrophy Type 2 ◽  
Cctg Repeat

Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported. Here, we describe 2 related DM2 patients both of whom displayed an atypical disease onset characterized by dysautonomic symptoms, possibly secondary to peripheral neuropathy.

scholarly journals Milroy’s Disease - The Rarest Cause of Lymphedema

1970 ◽  
Vol 11 (2) ◽  
pp. 189-192
Author(s):  
Faizul Islam Chowdhury ◽  
Ahmedul Kabir ◽  
Jayanta Banik ◽  
Pinaki Paul ◽  
Matiur Rahman ◽  
...  
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Chromosome 5Q

Milroy’s disease is an old term used to describe hereditary congenital lymphedema. It is the rarest of the inheritedlymphedema. The cause is a mutation in the VEGFR3 gene and is inherited in an autosomal dominant manner. Thisgene has been mapped to the telomeric part of the chromosome 5q in the region 5q34-q35. It is characterized bylower limb lymphedema, present at birth or developing soon after. It may be associated with intestinal lymphangiectasiaand cholestasis. Here we report a 57 years old male who had been suffering from bilateral leg swelling since birth andfinally leveled as a case of Milroy’s disease by positive family history and excluding other causes of lymphedema. Wepresent this case due to the rarity of its occurrence.Keywords: Milroy’s Disease; LymphedemaDOI: 10.3329/jom.v11i2.5471J MEDICINE 2010; 11 : 189-192

scholarly journals Familial Aggregation in Idiopathic Subglottic Stenosis

2020 ◽  
Vol 163 (5) ◽  
pp. 1011-1017
Author(s):  
Virginia E. Drake ◽  
Alexander Gelbard ◽  
Nara Sobriera ◽  
Elizabeth Wohler ◽  
Lynne L. Berry ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Familial Aggregation ◽  
Tertiary Care ◽  
Positive Family History ◽  
Disease Onset ◽  
Subglottic Stenosis ◽  
Patient Demographics ◽  
The North ◽  
Familial Clustering ◽  
Tertiary Care Centers

Objective To evaluate inheritance patterns and define the familial clustering rate of idiopathic subglottic stenosis (iSGS). Study Design Retrospective observational study. Setting International multicenter collaborative of >30 tertiary care centers. Methods Patients with a clinically confirmed iSGS diagnosis within the North American Airway Collaborative’s iSGS1000 cohort consented between 2014 and 2018 were eligible for enrollment. Patient demographics and disease severity were abstracted from the collaborative’s iSGS longitudinal registry. Pedigrees of affected families were created. Results A total of 810 patients with iSGS were identified. Positive family history for iSGS was reported in 44 patients in 20 families. The rate of familial clustering in iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with familial aggregation of iSGS, 42 were female and 2 were male; 13 were mother-daughter pairs and 2 were father-daughter pairs. There were 3 sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family members. One pedigree demonstrated 2 affected mother-daughter pairs, with the mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of onset between parents (48.4 years) and offspring (36.1 years) was significantly different ( P = .016). Conclusion This study quantifies the rate of familial clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease demonstrates anticipation. These data suggest that there may be a genetic contribution in iSGS.

Clinical Neurology

2014 ◽  
Author(s):  
Raymund A. C. Roos
Keyword(s):  
Sleep Disturbances ◽  
Autosomal Dominant ◽  
Motor Behavior ◽  
Clinical Symptoms ◽  
Behavior Changes ◽  
Clinical Neurology ◽  
Autonomic Dysregulation ◽  
Psychiatric Disturbances ◽  
Last Stage ◽  
Symptoms And Signs

Huntington’s disease (HD) is an autosomal dominant inherited disorder characterized by motor behavior changes, chorea and hypokinesia, psychiatric disturbances, and dementia. In this chapter the clinical symptoms and signs of the changes in motor behavior are described in detail as they evolve from the premanifest stage, through the conversion to manifest disease, and finally the to the last stage of the disease. Attention is also given to the less well known secondary signs of HD, such as weight loss, sleep disturbances, and autonomic dysregulation. The first presentation of the illness and the stages involved in reaching the clinical diagnosis are described. Finally, the differential diagnosis of chorea is discussed.

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