Huntington’s disease-like 2: a phenocopy not to miss

2020 ◽  
Vol 20 (6) ◽  
pp. 479-481
Author(s):  
Daniel Sabino De Oliveira ◽  
Daniela Pereira Santos ◽  
Daniel Oliveira Araujo ◽  
Pedro José Tomaselli ◽  
WIlson Marques Júnior ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Neurological Examination ◽  
Clinical Management ◽  
African Ancestry ◽  
Epileptic Seizures ◽  
Correct Identification ◽  
History Of ◽  
Slow Saccades

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington’s disease were negative but were positive for Huntington’s disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

Genetic counselling: a new diagnosis in the family

2020 ◽  
pp. 64-71
Author(s):  
Oliver Quarrell
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Medical Doctors ◽  
Genetic Tests ◽  
The Family ◽  
Close Relatives ◽  
New Diagnosis

This chapter describes the process of genetic counselling in general but with an emphasis on Huntington’s disease. The chapter discusses issues for a new diagnosis in the family and describes the challenges of telling children that they are at risk. Medical doctors often lead genetic counselling teams as they are specially trained to give information about genetic disorders and explain the implications of genetic tests. The doctor or counsellor has to understand your particular circumstances and support you in a way that allows you to make your own decisions. A diagnosis of HD has implications for you and all your close relatives.

scholarly journals Predictors of Survival in a Huntington's Disease Population from Southern Italy

2012 ◽  
Vol 39 (1) ◽  
pp. 48-51 ◽  
Author(s):  
Carlo Rinaldi ◽  
Elena Salvatore ◽  
Ilaria Giordano ◽  
Sara De Matteis ◽  
Tecla Tucci ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Southern Italy ◽  
Cox Regression ◽  
Age Of Onset ◽  
Survival Rates ◽  
Cox Regression Analysis ◽  
Therapeutic Trials ◽  
Expanded Allele ◽  
History Of

Background:The primary aim of the present study was to determine the survival rates and identify predictors of disease duration in a cohort of Huntington's disease (HD) patients from Southern Italy.Methods:All medical records of HD patients followed between 1977 and 2008 at the Department of Neurological Sciences of Federico II University in Naples were retrospectively reviewed and 135 patients were enrolled in the analysis. At the time of data collection, 41 patients were deceased (19 males and 22 females) with a mean ± SD age at death of 56.6 ± 14.9 years (range 18-83).Results:The median survival time was 20 years (95% CI: 18.3-21.7). Cox regression analysis showed that the number of CAG in the expanded allele (HR 1.09 for 1 point triplet increase, p=0.002) and age of onset (HR 1.05 for 1 point year increase, p=0.022) were independent and significant predictors of lower survival rates.Conclusions:We believe that these findings are important for a better understanding of the natural history of the disease and may be relevant in designing future therapeutic trials.

Drug-Resistant Myoclonic Epilepsy Revealing Juvenile Huntington's Disease: A Case Report

2018 ◽  
Vol 07 (01) ◽  
pp. 021-023
Author(s):  
Fatma Feki ◽  
Chahnez Triki ◽  
Nesrine Amara
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical History ◽  
Myoclonic Epilepsy ◽  
Drug Resistant ◽  
Dna Testing ◽  
History Of ◽  
Progressive Myoclonic Epilepsy ◽  
Juvenile Huntington’S Disease ◽  
Patients Experience

AbstractJuvenile Huntington's disease (JHD) shares many general clinical features with the adult form. One important difference is that JHD patients experience more epileptic manifestations, sometimes difficult to control. We describe an atypical clinical picture of a genetically confirmed JHD patient diagnosed during evaluation for a progressive myoclonic epilepsy. A female patient with a family history of psychiatric disorders developed recurrent drug-resistant myoclonic seizures at the age of 6 years, followed by extrapyramidal symptoms (rigidity and dystonia). Cognitive impairment, akinetic rigidity syndrome, and dystonia were noticed at the age of 10 years. Epileptiform abnormalities were noted in ictal electroencephalography. Magnetic resonance imaging showed brain atrophy. Genetic testing for HD confirmed the diagnosis. JHD can initially manifest as myoclonic epilepsy. A DNA testing should be performed if clinical history is suggestive.

scholarly journals Westphal Variant of Huntington's Disease

2017 ◽  
Vol 17 (01) ◽  
pp. 028-030
Author(s):  
L. Cabarcas-Castro ◽  
J. Ramón-Gómez ◽  
A. Zarante-Bahamón ◽  
O. Bernal-Pacheco ◽  
E. Espinosa-García ◽  
...  
Keyword(s):  
Family History ◽  
Huntington's Disease ◽  
Movement Disorder ◽  
Huntington’S Disease ◽  
Neurodegenerative Disorder ◽  
Cag Repeats ◽  
Molecular Evidence ◽  
Exon 1 ◽  
History Of

AbstractA Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia.

scholarly journals Psychogenic non-epileptic seizures in early Huntington's disease

2016 ◽  
Vol 16 (6) ◽  
pp. 452-454 ◽  
Author(s):  
Filipe Brogueira Rodrigues ◽  
Edward J Wild
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Epileptic Seizures

scholarly journals A Case of McLeod Phenotype of Neuroacanthocytosis Brain MR Features and Literature Review

2013 ◽  
Vol 26 (1) ◽  
pp. 21-26 ◽  
Author(s):  
J.R. Shah ◽  
D.P. Patkar ◽  
R.N. Kamat
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Serum Lipoprotein ◽  
Normal Serum ◽  
Neurological Involvement ◽  
Mri Features ◽  
Serum Creatine Phosphokinase ◽  
Serological Studies ◽  
History Of ◽  
Antigen Activity

Huntington's disease and neuroacanthocytosis may present similar clinical and MRI features. It is important to differentiate these findings since treatment and prognosis vary vastly between them. The aim of this article is to familiarize radiologists with the differentiating features of Huntington's disease and various diseases comprising neuroacanthocytosis. A 40-year-old Indian man with extrapyramidal symptoms was referred for MRI. The clinical diagnosis was Huntington's disease, but there were a few atypical clinical features such as a history of biting the tongue, tics, marked hyporeflexia and lower limb muscle wasting. MR showed atrophy of the caudate nucleus and putamen with iron deposition in the basal ganglia, which can be seen in Huntington's disease and in neuroacanthocytosis. An increased blood acanthocyte level was subsequently confirmed. Further work-up revealed increased serum creatine phosphokinase levels, normal serum lipoprotein levels and depressed K cell antigen activity on serological studies, confirming the diagnosis of McLeod syndrome. McLeod syndrome is one of the distinct phenotypes of neuroacanthocytosis. Neuroacanthocytosis is a group of disorders with increased serum acanthocyte counts and neurological involvement. Various causes of neuroacanthocytosis are discussed. It is important to consider the possibility of neuroacanthocytosis when features typical of Huntington's disease are encountered on imaging.

Facts and figures about Huntington’s disease

2020 ◽  
pp. 1-8 ◽  
Author(s):  
Oliver Quarrell
Keyword(s):  
North America ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Original Description ◽  
The World ◽  
History Of ◽  
Different Parts

This chapter gives a brief history of Huntington’s disease (HD) starting with the original description by George Huntington. The prevalence of HD is discussed together with data variations in different parts of the world. For example the incidence of HD in Europe and North America is approximately 1 person in 10,000. Apart from humans, no other animal naturally develops HD. The condition can start at almost any age but it is more frequent in midlife. The duration of the disease can be very variable but 20 years is often given as an approximate average.

Conduct disorder and affective disorder among the offspring of patients with Huntington's Disease

1983 ◽  
Vol 13 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Susan E. Folstein ◽  
Mary Lousie Franz ◽  
Barbara A. Jensen ◽  
Gary A. Chase ◽  
Marshal F. Folstein
Keyword(s):  
Conduct Disorder ◽  
Psychiatric Disorder ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Affective Disorder ◽  
Genetic Counselling ◽  
Early Onset ◽  
Affective Illness ◽  
Hd Gene ◽  
Early Manifestation

SynopsisThe rate of occurrence of conduct disorder and affective illness was studied for a sample of 112 offspring of 34 Huntington's Disease (HD) patients. Psychiatric disorder in the offspring was assessed as a function of: (1) age of the parent at the onset of symptoms of HD; (2) family disorganization; and (3) psychiatric disorder in either parent. The findings indicated an increased frequency of conduct disorder in disrupted families, most especially in those where the HD parent had an early onset of symptoms and the non-HD parent showed psychiatric disorder. Affective disorder in the offspring was most strongly associated with the presence of similar symptoms in the HD parent. Affective disorder, but not conduct disorder, may be an early manifestation of the HD gene. The implication of these findings for genetic counselling is discussed.

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