Folia Neuropathol. 2012;50(4):346-56.
Szymańska K, Lugowska A, Laure-Kamionowska M, Bekiesińska-Figatowska M, Gieruszczak-Białek D, Musielak M, Eichler S, Giese AK, Rolfs A.
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We ...
Investigating function and connectivity of morphometric findings — Exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17)
Neuroimage. 2012 Sep;62(3):1354-66
Reetz K, Dogan I, Rolfs A, Binkofski F, Schulz JB, Laird AR, Fox PT, Eickhoff SB.
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia but also a broad spectrum of other neuropsychiatric signs. As anatomical and structural studies have shown severe cerebellar atrophy in SCA17 and a ...
A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews
Mol Genet Metab. 2012 Nov;107(3):608-10.
Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A ...
J Child Neurol, published online 10 September 2012
Rupps R, Hukin J, Balicki M, Mercimek-Mahmutoglu S, Rolfs A, Dias C
Abstract: Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating ...
JIMD Reports Volume 6, 2012, pp 117-125
Wittmann J, Karg E, Turi S, Legnini E, Wittmann G, Giese AK, Lukas J, Goelnitz U, Klingenhaeger M, Bodamer O, Muehl A, Rolfs A
Abstract: Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. This is especially important as treatment in form of enzyme replacement therapy, ...
Acta Neurol Scand. 2012 Aug;126(2):129-137
Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C
Objective: While several genes have been identified to cause Parkinson's disease (PD), monogenic forms explain only a small proportion of cases. We report clinical and genetic results in a large family with late-onset autosomal dominant PD.Methods: Thirty-eight family members of a five-generation ...
- Brueggemann_N-Acta_Neurol_Scand-2012.pdf251 K
Mov Disord. 2011 Oct;26(12):2279-83
Arif B, Grünewald A, Fatima A, Ramirez A, Ali A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Malik A, Klein C, Naz S
Background: The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family.
Methods: Five patients, their 2 siblings, and their parents were clinically examined. DNA from all 7 siblings was genotyped with Affymetrix SNP ...
- Arif_B-Mov_Disord-2011.pdf4.2 M