Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary neurological disorders

This group contains neuro-muscular disorders that cluster in families.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Alzheimer disease
APOE
APP
CLU
CYP2D6
HFE
Arts syndrome
PRPS1
Autism
Aniridia-Wilms-tumor syndrome
PAX6
WT1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
FOXP1
Williams-Beuren syndrome
ELN
X-linked susceptibility to autism 3
MECP2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
DNMT1
Autosomal recessive spastic paraplegia type 44
GJC2
Brain malformations with urinary tract defects
NFIA
Brain small vessel disease with hemorrhage
COL4A1
COL4A2
Brunner syndrome
MAOA
Charcot-Marie-Tooth disease
INF2
X-linked Charcot-Marie-Tooth disease type 5
PRPS1
Congenital insensitivity to pain with anhidrosis
NTRK1
Hereditary benign chorea
NKX2-1
Hereditary distal motor neuron neuropathy type 5A
BSCL2
Hereditary muscle diseases
Inclusion body myopathy 2
GNE
Nonaka myopathy
GNE
Polyglucosan body myopathy type 1
RBCK1
Hereditary sensory and autonomic neuropathy type 2A
WNK1
Hereditary sensory neuropathy type 1E
DNMT1
Hypokalemic periodic paralysis 1
CACNA1S
Hypomyelinating Leukodystrophy 2
GJC2
Idiopathic basal ganglia calcification 1
SLC20A2
Intellectual disability-severe speech delay-mild dysmorphism syndrome
FOXP1
Migraine
TNF
Nemaline myopathy 5
TNNT1
Porencephaly
Porencephaly 1
COL4A1
Porencephaly 2
COL4A2
Rett syndrome
Atypical Rett syndrome
MECP2
MECP2
Rett syndrome variant with preserved speech
MECP2
Severe neonatal-onset encephalopathy with microcephaly
MECP2
Spastic paraplegia 17 with amyotrophy of hands and feet
BSCL2
Susceptibility to glioma
IDH1
Vascular dementia
TNF
X-linked syndromic mental retardation 13
MECP2
X-linked syndromic mental retardation Lubs type
MECP2
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

Guttman M et al. (2003) Current concepts in the diagnosis and management of Parkinson's disease.

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2.

Turnbull J et al. (2005) Sacred disease secrets revealed: the genetics of human epilepsy.

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Update: April 29, 2019