Hereditary Neuropathies

Question 1

Hereditary motor and sensory neuropathy 1 (Charcot-Marie-Tooth)

Answer 1

AD, PMP22 duplication, MPZ

Onion bulbs

Question 2

HMSN2

Answer 2

AD

MFN2, MPZ, Rab7

Question 3

HMSN10

Answer 3

X-linked Dom

GJB1

Question 4

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP)

Answer 4

AD

PMP22 deletion

Tomacula

Question 5

Hereditary Sensory and Autonomic Neuropathy 1 (HSAN1)

Answer 5

AD

SPTCLC1

Second decade onset

Question 6

HSAN2

Answer 6

AR

Childhood onset

Question 7

HSAN3

Answer 7

AR

IKBKAP

Riley-Day Syndrome; autonomic failure

Question 8

HSAN4 and HSAN5

Answer 8

AR

NTRK1-IV and NTRK1-V
NGGBeta-V

Question 9

Fabry Disease

Answer 9

XLR

Galactosidase A

Angiokeratoma, Cardiomyopathy, Enzyme replacement

Question 10

Refsum Disease

Answer 10

AR

Phytanoyl-CoA hydroxylase

Retinitis pigmentosa
Restrict phytanic acid

Question 11

Transthyretin amyloidosis

Answer 11

AD

TTR

Congophilic
Liver Transplant

Question 12

Gelsolin amyloidosis

Answer 12

AD

Gelsolin

Congophilic
Finnish, Facial nerve palsy, corneal lattice dystrophy

Question 13

Apolipoprotein A-1

Answer 13

AD

Apolipoprotein A-1

Congophilic

Question 14

Tangier Disease

Answer 14

AD

ATP-binding Cassette 1

Alpha-lipoprotein deficiency
Very low HDL
Orange tonsils
Sensory Neuropathy

Question 15

PMP22

Answer 15

Myelin protein

Question 16

GJB1

MPZ

Answer 16

Connexin 32

Myelin protein zero