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Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance. We used advanced neuroimaging to identify brain regions involved in SPG4, the most common HSP genotype. Additionally, we analyzed correlations between imaging and clinical findings. We performed 3T(More)
OBJECTIVE Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic paraplegia genes. RESULTS(More)
INTRODUCTION Immediate breast reconstruction (IBR) is routinely offered to improve quality of life for women with breast cancer requiring a mastectomy, but there are concerns that more complex surgery may delay the delivery of adjuvant oncological treatments and compromise long-term oncological outcomes. High-quality evidence, however, is lacking. iBRA-2 is(More)
Based on animal and ex-vivo experiments, Growth/Differentiation Factor-15 (GDF15, also called Macrophage Inhibitory Cytokine-1, MIC1), a member of the transforming growth factor-beta family, and Matrix Metalloproteinase-9 (MMP9), a member of the matrix metalloprotease family may be potential markers for Lewy body disorders, i.e. Parkinson's disease with(More)
Ultrasound of the nerves is an additive diagnostic tool to evaluate polyneuropathy. Recently, the need for standardized scoring systems has widely been discussed; different scores are described so far. Therefore, 327 patients with polyneuropathy were analyzed by ultrasound in our laboratory. Consequently, several ultrasound scoring tools were applied, i.e.,(More)
In amyotrophic lateral sclerosis (ALS), objective biomarkers are needed for early diagnosis and progression monitoring. Reduced phosphorylated tau (p-tau) in cerebrospinal fluid (CSF) has recently been proposed to provide such a biomarker in ALS. Here, we aimed to scrutinize this notion, evaluating both p-tau and total tau (t-tau) in CSF of ALS patients and(More)
Recent theories about migraine pathogenesis have emphatized the role of the trigeminal system in the pathogenesis of migraine attacks. The local vasodilatation of intracranial extracerebral blood vessels and the consequent stimulation of surrounding trigeminal sensory nerve pain pathways are proposed to be the key mechanisms underlying the generation of(More)
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