Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

Inclusion Criteria: For patients\> 18 years 1. Unclear movement disorder o Progressive ataxia after minimal exclusion diagnostics: magnetic resonance tomography (MRT) (structural lesions such as cerebellar tumor, malformation) Laboratory (Vitamin B12, thyroid peroxidase (TPO) antibodies, glutamate decarboxylase (GAD) II-antibodies (AK) In medullary lesions: Liquor exclusion Friedreich ataxia (FRDA) and spinocerebellar ataxia type (SCA)1-2-3-6 o Progressive para-spasticity by minimal exclusion diagnostics: MRT neuro axis (structural lesions such as cervical myelopathy) Laboratory (Vitamin B12, human T-cell lymphotrophic virus ((HTLV)-AK) In medullary lesions: Liquor 2. Unclear cognitive decline o After minimal exclusion diagnosis MRT (intracranial pressure, focal brain lesions explanatory) laboratory (Thyroid-stimulating hormone (TSH), TPO-AK, antibody profile limbic encephalitis) Liquor (inflammation, meningitis) Electroencephalography (EEG) (Status) Exclusion chromosome 9 open reading frame 72 (C9orf72) For patients \<18 years Patients with (penetrating) suspected cerebral neurogenetic diseases * Unclear movement disorder (spasticity, ataxia, dyskinesia) * Unclear cognitive disorder with probability of monogenic origin * Fragile X Syndrome (Fra-X) at mentally retarded boy, Friedreich ataxia (FRDA) with ataxia should be genetically excluded Exclusion Criteria: For patients \> 18 years 1. Lack of consent 2. symptom onset \> 40 years of age 3. Sudden, abrupt beginning 4. As early as previous history of genetic diagnosis using next-generation sequencing (NGS), also in the form of a panel For patients \<18 years 1. injury brain disorders * On the basis of imaging * On the basis of medical history (premature baby, hypoxic-ischemic encephalopathy) 2. Inflammatory brain disorders * On the basis of imaging * On the basis of laboratory parameters (Oligoclonal fractions, cerebrospinal fluid (CSF) cell count increased) 3. Light, isolated mental developmental disorder or behavioral disorder (rare monogenetic) - (less than 2 standard deviartion of normal or - \< 6 year olds - less than 1 year in development history back) 4. Sudden , abrupt beginning 5. Next-generation sequencing (NGS) also in the form of a panel