| 1. |
|
|
| 2. |
- Autti, Taina, et al.
(författare)
-
Extensive cerebral white matter abnormality without clinical symptoms : a new hereditary condition?
- 1999
-
Ingår i: Annals of Neurology. - 0364-5134 .- 1531-8249. ; 45:6, s. 801-5
-
Tidskriftsartikel (refereegranskat)abstract
- 30-year-old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13-year follow-up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father.
|
|
| 3. |
- Ben-Shlomo, Y, et al.
(författare)
-
Mortality in DATATOP
- 1999
-
Ingår i: Annals of neurology. - 0364-5134. ; 45:1, s. 138-139
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 4. |
|
|
| 5. |
- Cossee, Mireille, et al.
(författare)
-
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
- 1999
-
Ingår i: Annals of Neurology. - 0364-5134 .- 1531-8249. ; 45:2, s. 200-206
-
Tidskriftsartikel (refereegranskat)abstract
- Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansion and a frataxin point mutation. We report here the identification of 10 novel frataxin point mutations, and the detection of a previously described mutation (G130V) in two additional families. Most truncating mutations were in exon 1. All missense mutations were in the last three exons coding for the mature frataxin protein. The clinical features of 25 patients with identified frataxin point mutations were compared with those of 196 patients homozygous for the GAA expansion. A similar phenotype resulted from truncating mutations and from missense mutations in the carboxy-terminal half of mature frataxin, suggesting that they cause a comparable loss of function. In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. The incidence of optic disk pallor was higher in compound heterozygotes than in expansion homozygotes, which might correlate with a very low residual level of normal frataxin produced from the expanded allele.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
- Järvelä, I., et al.
(författare)
-
Clinical and magnetic resonance imaging findings in Batten disease : Analysis of the major mutation (1.02-kb deletion)
- 1997
-
Ingår i: Annals of Neurology. - 0364-5134 .- 1531-8249. ; 42:5, s. 799-802
-
Tidskriftsartikel (refereegranskat)abstract
- A total of 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02-kb deletion, in the CLN3 gene, were studied to relate their genotype to their clinical phenotype. The onset of visual failure and epilepsy was highly concordant in both groups. Great inter- and intrafamilial heterogeneity was demonstrated in the development of mental and physical handicap and in magnetic resonance imaging findings among both homozygous and heterozygous patients. The 1.02-kb deletion in homozygous form was always associated with mental and physical handicap, whereas the heterozygous phenotype could be extremely benign without affecting the intellectual level of the patient. Our data suggest that genetic background, modifying genes, and environmental factors all influence the final phenotype of Batten disease.
|
|
| 10. |
|
|
