Zentrum für Seltene neurologische Erkrankungen und Entwicklungsstörungen (ZSNE) am Universitätsklinikum Tübingen Assigned diseases:
In the following you will find the diseases that are treated in this facility:
3-methylglutaconic aciduria type 3
4H leukodystrophy
Acquired ataxia
Acquired motor neuron disease
Adrenomyeloneuropathy
Adult Krabbe disease
Adult-onset autosomal dominant leukodystrophy
Adult-onset autosomal recessive cerebellar ataxia
Aicardi-Goutières syndrome
Alexander disease
Alexander disease type I
Alexander disease type II
Allan-Herndon-Dudley syndrome
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 4
Ataxia with vitamin E deficiency
Ataxia-deafness-intellectual disability syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-oculomotor apraxia type 1
Ataxia-tapetoretinal degeneration syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia-like disorder
Atypical pantothenate kinase-associated neurodegeneration
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia type I
Autosomal dominant cerebellar ataxia type II
Autosomal dominant cerebellar ataxia type III
Autosomal dominant cerebellar ataxia type IV
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant complex spastic paraplegia
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant distal hereditary motor neuropathy
Autosomal dominant proximal spinal muscular atrophy
Autosomal dominant pure spastic paraplegia
Autosomal dominant spastic ataxia
Autosomal dominant spastic ataxia type 1
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 19
Autosomal dominant spastic paraplegia type 29
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 36
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 38
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 41
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 9
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia
Autosomal recessive cerebellar ataxia due to a DNA repair defect
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive complex spastic paraplegia
Autosomal recessive congenital cerebellar ataxia
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive degenerative and progressive cerebellar ataxia
Autosomal recessive distal hereditary motor neuropathy
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive metabolic cerebellar ataxia
Autosomal recessive pure spastic paraplegia
Autosomal recessive spastic ataxia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 32
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 53
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 56
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive syndromic cerebellar ataxia
Autosomal spastic paraplegia type 18
Autosomal spastic paraplegia type 30
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Behavioral variant of frontotemporal dementia
Benign hereditary chorea
Bulbospinal muscular atrophy
Bulbospinal muscular atrophy of adult
Bulbospinal muscular atrophy of childhood
CACH syndrome
CADDS
CAMOS syndrome
Canavan disease
Cancer-associated retinopathy
Cataract-ataxia-deafness syndrome
Cerebellar ataxia, Cayman type
Cerebellar ataxia-hypogonadism syndrome
Cerebrotendinous xanthomatosis
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Choreoacanthocytosis
Christianson syndrome
Classic pantothenate kinase-associated neurodegeneration
Classic paraneoplastic limbic encephalitis
Combined dystonia
Complex hereditary spastic paraplegia
Congenital or early infantile CACH syndrome
Corpus callosum agenesis-neuronopathy syndrome
Cree leukoencephalopathy
Cystic leukoencephalopathy without megalencephaly
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Dentatorubral pallidoluysian atrophy
Dermatoleukodystrophy
Distal hereditary motor neuropathy type 1
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy, Jerash type
Distal spinal muscular atrophy type 3
Dysequilibrium syndrome
EAST syndrome
Early-onset cerebellar ataxia with retained tendon reflexes
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Episodic ataxia type 1
Episodic ataxia type 3
Episodic ataxia type 4
Episodic ataxia type 5
Episodic ataxia type 6
Episodic ataxia type 7
Familial paroxysmal ataxia
Fragile X-associated tremor/ataxia syndrome
Friedreich ataxia
Frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Generalized bulbospinal muscular atrophy
Genetic dementia
Genetic motor neuron disease
Genetic neurodegenerative disease
Hemidystonia-hemiatrophy syndrome
Hereditary ataxia
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary episodic ataxia
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary spastic paraplegia
Huntington disease
Huntington disease-like 2
Huntington disease-like 3
Huntington disease-like syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypomyelination-congenital cataract syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Infantile Krabbe disease
Infantile Refsum disease
Infantile-onset X-linked spinal muscular atrophy
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Infantile-onset spinocerebellar ataxia
Inherited congenital spastic tetraplegia
Isolated dystonia
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juvenile amyotrophic lateral sclerosis
Juvenile or adult CACH syndrome
Juvenile primary lateral sclerosis
Kennedy disease
Krabbe disease
Lambert-Eaton myasthenic syndrome
Late infantile CACH syndrome
Late-infantile/juvenile Krabbe disease
Leigh syndrome with leukodystrophy
Lethal ataxia with deafness and optic atrophy
Leukodystrophy
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Limbic encephalitis associated with antibodies to cell membrane antigens
Limbic encephalitis with LGI1 antibodies
Limbic encephalitis with nCMAgs antibodies
Locked-in syndrome
Logopenic progressive aphasia
Lower motor neuron syndrome with late-adult onset
MASA syndrome
MT-ATP6-related mitochondrial spastic paraplegia
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Madras motor neuron disease
Marinesco-Sjögren syndrome
McLeod neuroacanthocytosis syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Metachromatic leukodystrophy
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Mild Canavan disease
Mills syndrome
Monomelic amyotrophy
Motor neuron disease
Multiple system atrophy, cerebellar type
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Mutilating hereditary sensory neuropathy with spastic paraplegia
Myoclonus-cerebellar ataxia-deafness syndrome
NMDA receptor encephalitis
Nasu-Hakola disease
Neonatal adrenoleukodystrophy
Neuroacanthocytosis
Neuroferritinopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Neurometabolic disease
Niemann-Pick disease type C
Niemann-Pick disease type C, juvenile neurologic onset
Non-hereditary degenerative ataxia
Non-progressive cerebellar ataxia with intellectual disability
Null syndrome
O'Sullivan-McLeod syndrome
Odontoleukodystrophy
Opsoclonus-myoclonus syndrome
Orofaciodigital syndrome type 6
Ovarioleukodystrophy
Pantothenate kinase-associated neurodegeneration
Paraneoplastic limbic encephalitis
Paraneoplastic neurologic syndrome
Parkinson-dementia complex of Guam
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher-like disease
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Periventricular leukomalacia
Peroxisome biogenesis disorder
Poliomyelitis
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Posterior column ataxia-retinitis pigmentosa syndrome
Postpoliomyelitis syndrome
Primary lateral sclerosis
Primary progressive aphasia
Progressive cavitating leukoencephalopathy
Progressive non-fluent aphasia
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pure hereditary spastic paraplegia
Pure or complex X-linked spastic paraplegia
Pure or complex autosomal dominant spastic paraplegia
Pure or complex autosomal recessive spastic paraplegia
Pure or complex hereditary spastic paraplegia
Rapid-onset dystonia-parkinsonism
Rare ataxia
Rare disorder with dystonia and other neurologic or systemic manifestation
Rare dystonia
Rare genetic movement disorder
Rare genetic neurological disorder
Rare movement disorder
Rare neurodegenerative disease
Rare parkinsonian disorder
Rare parkinsonian syndrome due to neurodegenerative disease
Ravine syndrome
Recessive mitochondrial ataxia syndrome
Refsum disease
Riboflavin transporter deficiency
Richards-Rundle syndrome
Semantic dementia
Severe Canavan disease
Severe intellectual disability and progressive spastic paraplegia
Spastic ataxia
Spastic ataxia with congenital miosis
Spastic ataxia-corneal dystrophy syndrome
Spastic paraplegia type 2
Spastic paraplegia type 7
Spastic paraplegia-Paget disease of bone syndrome
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-facial-cutaneous lesions syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic paraplegia-nephritis-deafness syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spastic paraplegia-precocious puberty syndrome
Spectrin-associated autosomal recessive cerebellar ataxia
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Spinal muscular atrophy associated with central nervous system anomaly
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 18
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 20
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 25
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 30
Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 32
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 37
Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 5
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8
Spinocerebellar ataxia with axonal neuropathy type 1
Spinocerebellar ataxia with axonal neuropathy type 2
Spinocerebellar ataxia-dysmorphism syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome
Sporadic adult-onset ataxia of unknown etiology
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Superficial siderosis
Symmetrical thalamic calcifications
Unknown leukodystrophy
X-linked adrenoleukodystrophy
X-linked cerebellar ataxia
X-linked cerebral adrenoleukodystrophy
X-linked complex spastic paraplegia
X-linked distal spinal muscular atrophy type 3
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked non progressive cerebellar ataxia
X-linked progressive cerebellar ataxia
X-linked pure spastic paraplegia
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked spastic paraplegia type 16
X-linked spastic paraplegia type 34
X-linked spinocerebellar ataxia type 3
X-linked spinocerebellar ataxia type 4
Young adult-onset distal hereditary motor neuropathy
Zellweger syndrome