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1.
Neurocase ; 20(1): 69-86, 2014.
Article in English | MEDLINE | ID: mdl-23121543

ABSTRACT

OBJECTIVES: Patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) may be agraphic. The study aimed at characterizing agraphia in individuals with a P301L MAPT mutation. METHODS: Two pairs of siblings with FTDP-17 were longitudinally examined for agraphia in relation to language and cognitive deficits. RESULTS: All patients presented with dysexecutive agraphia. In addition, in the first pair of siblings one sibling demonstrated spatial agraphia with less pronounced allographic agraphia and the other sibling had aphasic agraphia. Aphasic agraphia was also present in one sibling from the second pair. CONCLUSION: Agraphia associated with FTDP-17 is very heterogeneous.


Subject(s)
Agraphia/diagnosis , Agraphia/genetics , Chromosomes, Human, Pair 17 , Frontotemporal Dementia/genetics , Parkinsonian Disorders/genetics , tau Proteins/genetics , Brain/pathology , Disease Progression , Female , Frontotemporal Dementia/pathology , Frontotemporal Dementia/psychology , Humans , Longitudinal Studies , Male , Middle Aged , Mutation , Parkinsonian Disorders/pathology , Parkinsonian Disorders/psychology
2.
Arch Neurol ; 68(3): 376-80, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21403024

ABSTRACT

OBJECTIVE: To examine the relationship between progranulin gene mutation and apraxic agraphia. DESIGN: Case report. SETTING: Tertiary care medical center. PATIENT: A 49-year-old right-handed woman who presented with apraxic agraphia that progressed into the corticobasal syndrome. RESULTS: This woman had no family history of neurodegenerative disease. Magnetic resonance imaging and fluorodeoxyglucose positron emission tomographic scans of her head revealed significant asymmetric frontoparietal abnormalities, in keeping with the clinical diagnosis of corticobasal syndrome. Progranulin gene sequencing identified a 4-base pair deletion. CONCLUSIONS: Patients presenting with early apraxic agraphia, a progressive disease course, and asymmetric frontoparietal abnormalities on brain scans should be considered for progranulin gene testing despite negative family history.


Subject(s)
Agraphia/genetics , Basal Ganglia Diseases/genetics , Intercellular Signaling Peptides and Proteins/genetics , Mutation/physiology , Agraphia/diagnostic imaging , Agraphia/psychology , Basal Ganglia Diseases/diagnostic imaging , Basal Ganglia Diseases/psychology , Brain/pathology , Female , Fluorodeoxyglucose F18 , Functional Laterality/physiology , Handwriting , Humans , Magnetic Resonance Imaging , Middle Aged , Neuropsychological Tests , Positron-Emission Tomography , Progranulins , Radiopharmaceuticals
3.
Twin Res Hum Genet ; 8(6): 585-93, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16354500

ABSTRACT

The genetic etiology of mathematical and reading (dis)ability has been studied in a number of distinct samples, but the true nature of the relationship between the two remains unclear. Data from the Netherlands Twin Register was used to determine the etiology of the relationship between mathematical and reading (dis)ability in adolescent twins. Ratings of mathematical and reading problems were obtained from parents of over 1500 twin pairs. Results of bivariate structural equation modeling showed a genetic correlation around .60, which explained over 90% of the phenotypic correlation between mathematical and reading ability. The genetic model was the same for males and females.


Subject(s)
Agraphia/etiology , Learning Disabilities/etiology , Models, Genetic , Adolescent , Adult , Agraphia/genetics , Child , Female , Humans , Learning Disabilities/genetics , Male , Netherlands , Reading
5.
Child Care Health Dev ; 15(3): 151-66, 1989.
Article in English | MEDLINE | ID: mdl-2758569

ABSTRACT

Sixty-six children were studied who had presented to the paediatric neurology service over a 2-year period, because they were failing to make the expected progress in mainstream school. Their parents were interviewed with a structured questionnaire and the children had a full neurodevelopmental examination which included a detailed assessment of hand function. Thirty-nine per cent of the children had a specific dysgraphia and there was a male predominance. The different populations of affected children had distinguishing characteristics. A family history of written language skill difficulties was elicited for most of the children with a developmental spelling dysgraphia, but it was uncommon in the children with an acquired spelling dysgraphia or motor dysgraphia. Slow speech development occurred frequently in developmental and acquired spelling dysgraphic children. Mixed handedness was significantly commoner in dysgraphic children who had acquired problems (P less than 0.05), whereas handedness in the developmental groups was within the expected normal distribution. Aspects of hand function such as power of hand grip did not distinguish the dysgraphic children. However, children with a spelling or motor dysgraphia had speeds of motor performance on successive finger movements and rapid hand pats outwith the normal range. These simple tests are a useful way of examining pertinent handskill difficulties in dysgraphic children.


Subject(s)
Agraphia/physiopathology , Motor Skills/physiology , Agraphia/genetics , Brain Damage, Chronic/physiopathology , Child , Child Development , Fatigue/physiopathology , Functional Laterality/physiology , Hand/physiopathology , Humans , Language Development Disorders/physiopathology
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