Laboratory for Ultrastructural Neuropathology (LUN)

10. Illustrations

CLN2
Skin biopsy: neuronal ceroid lipofuscinosis (CLN2)
Ceuterick-de Groote C and Martin J-J. 1998
Postmortem brain
Postmortem brain: neuronal intranuclear inclusion
Pirici D et al. 2006
CADASIL
Skin biopsy: GOM in CADASIL
Ceuterick-de Groote C and Martin J-J. 1998
mutation PRX
Peripheral nerve biopsy: CMT: PRX: absence of septate-like junctions
Takashima H et al 2002
PMP22
Skin biopsy: CMT: PMP22 (Ser72Leu): ‘onion bulb formations’
Ceuterick-de Groote C et al 2001
mutation SEPN1
Skeletal muscle biopsy: congenital myopathy: SEPN1:‘multiminicores’ and Mallory body-like inclusions’
Ferreiro A et al 2004
mutation MYH7
Skeletal muscle biopsy: congenital myopathy: MYH7: ‘myosin storage disease’
Laing N et al 2005
mutation TMP2
Skeletal muscle biopsy: congenital myopathy: TPM2: ‘cap disease’
Lehtokari V et al. 2007
Mitochondrial abnormalities
Skeletal muscle biopsy: mitochondrial abnormalities in mitochondrial disease
IBM
Skeletal muscle biopsy: intranuclear inclusions in “inclusion body myositis”

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