Ataxia telangiectasia is one of a group of recessive hereditary genomic instability disorders and is characterized by progressive neurodegeneration, immunodeficiency and cancer susceptibility. Heterozygotes for the mutated gene are more susceptible to cancer and to ischaemic heart disease. The affected gene, ATM (ataxia telangiectasia mutated), has been cloned and codes for a protein kinase (AT...

We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenoty...

BACKGROUND The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, an...

A 22-year-old male university student was referred due to gradual visual loss in his left eye since one year ago. His past medical and ocular history were unremarkable. On ophthalmological examination, best corrected visual acuity was 20/20 and 20/80 in the right and left eyes respectively. Anterior segment examination was unremarkable and intraocular pressure was within normal limits in both e...

BACKGROUND Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. CASE REPORT We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous...

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...

A familial syndrome of progressive cerebellar ataxia and choreoathetosis, associated with oculocutaneous telangiectasia and recurrent sinobronchitis in childhood, has recently been described in the American literature. The close similarity of the clinical features observed by Boder and Sedgwick (1957, 1958), Wells and Shy (1957), Biedmond (1957), Centerwall and Miller (1958) and Ford (1960) lea...

Telangiectasia macularis multiplex acquisita (TMMA) is a rarely documented disease entity that usually occurs in the middle-aged men. A 68-year-old man presented with asymptomatic erythematous-brownish macules with telangiectasia on the upper arms, anterior chest, shoulders, and upper back. He had hypertension, diabetes, and hepatitis B infection for several years. Laboratory findings revealed ...

A 58-year-old Taiwanese married male presented to our emergency department with progressive dizziness and generalized weakness for 1 week. His blood pressure was 138/91 mmHg and heart rate was 74 bpm. He stated that nosebleeds occurred off and on for more than 20 years, and he had been diagnosed pulmonary arteriovenous malformation (AVM) and received coils embolization in April, 2009 (Figure 1a...