Neurogenetics

The field of neurogenetics encompasses numerous neurological, muscular and psychiatric disorders. Some disorders manifest in childhood, others only affect adults. The diagnosis requires a detailed history and a comprehensive clinical examination.

Due to non-specific, overlapping and/or very complex symptoms, finding a diagnosis and choosing the appropriate diagnostic method can challenging. Genetic counselling and diagnostic approaches are often preceded by a long medical history with frequent physician visits and examinations.

A genetic consultation or a genetic diagnosis should be considered for patients with the following clinic/symptoms, for example

• Epilepsy
• Ataxia
• Muscular dystrophy/atrophy of muscles
• Myopathy
• Neuropathy
• Myotonia and dystonia
• Frontotemporal dementia, Alzheimer's disease
• Parkinson's disease
• Huntington's disease
• Brain malformation
• Amyotrophic lateral sclerosis (ALS)
• Familial hemiplegic migraine
• Hereditary spastic paraplegia and periodic paralysis

If a genetic cause is identified, targeted individual treatment strategies can be started and possible complications can be avoided or reduced. A definite diagnosis can also help with finding a constructive way of dealing with the disease and taking advantage of supportive measures. Furthermore, a genetic diagnosis enables an estimation of the recurrence risk in relatives (e.g. in Huntington's disease). Please note that according to the German Gene Diagnostics Act §10 para. 2, predictive analyses in healthy relatives of affected patients may only be performed after genetic counselling.

Due to our many years of clinical and diagnostic experience and our very broad diagnostic spectrum (based on state-of-the-art methods, including genome sequencing, optical genome mapping, long-read sequencing), we can provide excellent advice on questions in the field of neurogenetics. In addition to the detection of known genetic variants, we are also engaging in the scientific identification of previously unknown disease genes or disease-causing variants (PMIDs: 23838597, 21633164, 26386247 and 24456803).